European Journal of Medical GeneticsThis is an RSS file. You can use it to subscribe to this data in your favourite RSS reader, such as GoogleReader, or to display this data on your own website or blog. Subscribe to this data using MyMedWorm.Subscribe to this data using GoogleReader.Subscribe to this data using Bloglines.Subscribe to this data using MyYahoo.

This page shows you the latest items in this publication.

Pages: 1 2 3 4 5 6

260 records returned

Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We report on a newborn from consanguineous parents who presented with multiple congenital anomalies and neonatal hemochromatosis. The syndrome consisted of intrauterine growth retardation, intestinal atresia, gallbladder aplasia and diabetes mellitus, and fitted with the diagnosis of Martinez-Frias syndrome, a very rare autosomal recessive phenotype, the gene of which remains to be identified. We suggest that neonatal hemochromatosis may be part of the Martinez-Frias syndrome. Molecular analyses in this and other reported patients with the Martinez-Frias syndrome should shed light on gut development and iron metabolism. ...
Source: European Journal of Medical Genetics - October 31, 2009 Category: Genetics & Stem Cells Authors: Martinovici D, Ransy V, Eijnden SV, Ridremont C, Pardou A, Cassart M, Avni F, Donner C, Lingier P, Mathieu A, Gulbis B, De Brouckère V, Cnop M, Abramowicz M, Désir J Tags: Eur J Med Genet Source Type: journals

Radicular dysfunction due to spinal deformities in Marfan syndrome at older age: Three case reports.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Marfan syndrome is a heritable connective tissue disorder due to mutations in fibrillin-1. It presents with cardiovascular, ocular, skeletal, pulmonary and dural signs and symptoms. Some of the symptoms of later onset are those associated with scoliosis and dural ectasia. This is the enlargement of the neural canal especially in the lower lumbar and sacral region and occurs in over 90% of Marfan patients. We here report three patients with lumbar and/or sacral radiculopathy due to (kypho)scoliosis and dural ectasia with spinal meningeal cysts. The pain, muscle weakness, muscle atrophy, and sensory disturbances illustra...
Source: European Journal of Medical Genetics - October 29, 2009 Category: Genetics & Stem Cells Authors: Voermans NC, Hosman A, van Alfen N, Bartels RH, de Kleuver M, Op den Akker JW, van Engelen BG Tags: Eur J Med Genet Source Type: journals

Classification of Osteogenesis Imperfecta Revisited.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In 1979 Sillence proposed a classification of Osteogenesis Imperfecta (OI) in OI types I, II, III and IV. In 2004 and 2007 this classification was expanded with OI types V-VIII because of distinct clinical features and/or different causative gene mutations. We propose a revised classification of OI with exclusion of OI type VII and VIII since these types have been added because of genetic criteria (autosomal recessive inheritance) while the clinical and radiological features are indistinguishable from OI types II-IV. Instead, we propose continued use of the Sillence criteria I, II-A, II-B, II-C, III and IV for clinical...
Source: European Journal of Medical Genetics - October 27, 2009 Category: Genetics & Stem Cells Authors: Van Dijk FS, Pals G, Van Rijn RR, Nikkels PG, Cobben JM Tags: Eur J Med Genet Source Type: journals

The importance of chromosome studies in Roberts syndrome/SC phocomelia and other cohesinopathies.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Roberts syndrome/SC phocomelia is a rare, autosomal recessive syndrome characterised by pre- and postnatal growth retardation, microcephaly, craniofacial anomalies, mental retardation, and tetraphocomelia in varying degrees of severity. The clinical diagnosis can be challenging in phenotypically mild cases. In the extremely mild case presented here, specific mitotic abnormalities were detected and proved to be very helpful, since Roberts syndrome/SC phocomelia could be diagnosed after finding premature centromere separation and somatic aneuploidy at routine karyotyping. We discuss these and other mitotic cytogenetic ab...
Source: European Journal of Medical Genetics - October 27, 2009 Category: Genetics & Stem Cells Authors: Gerkes EH, van der Kevie-Kersemaekers AM, Yakin M, Smeets DF, van Ravenswaaij-Arts CM Tags: Eur J Med Genet Source Type: journals

Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In this study, genomic DNAs from 132 French patients with unexplained mental retardation were analysed by genomewide high-resolution Agilent((R)) 44K oligonucleotide arrays. The results were in accordance with those observed in previous studies: the detection rate of pathogenic CNVs was 14.4%. A non-random involvement of several chromosomal regions was observed. Some of the microimbalances recurrently involved regions (1q21.1, 2q23.1, 2q32q33, 7p13, 17p13.3, 17p11.2, 17q21.31) corresponding to known or novel syndromes. For all the pathogenic CNVs, further cases are needed to allow more accurate genotype-phenotype correlati...
Source: European Journal of Medical Genetics - October 27, 2009 Category: Genetics & Stem Cells Authors: Jaillard S, Drunat S, Bendavid C, Aboura A, Etcheverry A, Journel H, Delahaye A, Pasquier L, Bonneau D, Toutain A, Burglen L, Guichet A, Pipiras E, Gilbert-Dussardier B, Benzacken B, Martin-Coignard D, Henry C, David A, Lucas J, Mosser J, David V, Odent S Tags: Eur J Med Genet Source Type: journals

De novo deletion of chromosome 11q13.4-q14.3 in a boy with microcephaly, ptosis and developmental delay.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Many distal deletions of chromosome 11q have been described, but reports on deletion of 11q13-q14 are rare in the literature. Here we describe the genotype and phenotype of a boy with a deletion of this region. We fine mapped the aberration with array-CGH, revealing an 18.2 Mb deletion. The main clinical features included microcephaly, ptosis and moderate developmental delay. The symptoms partially overlap with previously reported patients with a deletion in the same region. PMID: 19857611 [PubMed - as supplied by publisher] (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - October 23, 2009 Category: Genetics & Stem Cells Authors: Wincent J, Schoumans J, Anderlid BM Tags: Eur J Med Genet Source Type: journals

Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: Roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
This article reviews these new data alongside other genetic causes of syndromic esophageal atresia, and also highlights information from relevant mouse models, particularly those for genes in the Sonic Hedgehog pathway. PMID: 19822228 [PubMed - as supplied by publisher] (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - October 8, 2009 Category: Genetics & Stem Cells Authors: Shaw-Smith C Tags: Eur J Med Genet Source Type: journals

Oculo-dento-digital dysplasia: Lack of genotype-phenotype correlation for GJA1 mutations and usefulness of neuro-imaging.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We report here four patient from three families with GJA1 mutations, one of them diagnosed prenatally. The three mutations (c.52T > C/p.Ser18Pro, c.689_690delTA/p.Tyr230CysfsX6, c.442C > G/p.Arg148Gly) have been reported once before. Two patient had white matter hypersignal anomalies, associated in one case with mental retardation, but asymptomatic in the other one, an observation that leas us to discuss systematic neuroradiological imaging for ODDD. One case has optic atrophy, another has hypospadias. The patient carrying a truncating mutation of Cx43 did not have palmoplantar keratoderma, in contradiction with the ...
Source: European Journal of Medical Genetics - October 4, 2009 Category: Genetics & Stem Cells Authors: Alao MJ, Bonneau D, Holder-Espinasse M, Goizet C, Manouvrier-Hanu S, Mezel A, Petit F, Subtil D, Magdelaine C, Lacombe D Tags: Eur J Med Genet Source Type: journals

A 6-year-old child with Fryns syndrome: Further delineation of the natural history of the condition in survivors.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We report on a 6-year-old male child displaying an association of congenital diaphragmatic hernia (CDH), lung hypoplasia, corneal clouding and coarse face in the absence of distal digital/nail hypoplasia. Based on the recently published diagnostic guidelines, our patient fits the narrow definition of FS. Only a minority of FS patients surviving the neonatal period have been reported, thus limiting the recognition of the infantile phenotype. We compared the features observed in our proband with those of 10 published survivors. Neurological impairment ranging from mild to severe was present in all patients, while seizures ma...
Source: European Journal of Medical Genetics - September 29, 2009 Category: Genetics & Stem Cells Authors: Dentici ML, Brancati F, Mingarelli R, Dallapiccola B Tags: Eur J Med Genet Source Type: journals

A novel 1.4 Mb de novo microdeletion of chromosome 1q21.3 in a child with microcephaly, dysmorphic features and mental retardation.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
A 2.5 years old girl presented with moderate mental retardation, microcephaly, arching eyebrows, low set ears, long eyelashes, persistent fetal pads and clinodactyly. About 1 Mb deletion in the chromosomal region 1q21.3 was identified using BAC array CGH analysis. The parental follow up FISH analysis was normal. Further study of the deletion using a 244K oligo-array of Agilent Technologies Inc., Santa Clara, CA, USA. defined the deleted region to span about 1.4 Mb with approximate genomic location chr1:152,511,593-153,993,103 (NCBI genome build 36). This is a novel deletion, not reported to-date. Larger proximal 1q del...
Source: European Journal of Medical Genetics - September 18, 2009 Category: Genetics & Stem Cells Authors: Reddy S, Dolzhanskaya N, Krogh J, Velinov M Tags: Eur J Med Genet Source Type: journals

4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Microdeletions at 14q12 that include FOXG1, or loss of function mutations in FOXG1, are associated with the congenital variant of Rett syndrome. By SNP microarray analysis we identified a corresponding microduplication at 14q12 in a nine year old girl with symptomatic generalized epilepsy, severe intellectual impairment, and minor dysmorphisms, but without microcephaly. The 14q12 microduplication comprised 4.45 Mb of DNA and included FOXG1. This is the first report of duplication involving FOXG1 and suggests a dosage sensitive role for FOXG1 in brain development. PMID: 19772934 [PubMed - as supplied by publisher] (...
Source: European Journal of Medical Genetics - September 18, 2009 Category: Genetics & Stem Cells Authors: Yeung A, Bruno D, Scheffer IE, Carranza D, Burgess T, Slater HR, Amor DJ Tags: Eur J Med Genet Source Type: journals

A familial 593-kb microdeletion of 16p11.2 associated with mental retardation and hemivertebrae.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In this study, a familial occurrence of the 16p11.2 deletion was identified in association with hemivertebrae The proband was a 3-year-old boy who showed developmental delay, displayed hyperactive but not autistic behavior, and had hemivertebrae, rib anomalies, and inguinal hernia. Familial investigation revealed that his mother shared the same deletion. Under the hypothesis of the existence of an unmasked mutation in the deletion region, we analyzed the sequence of the T-box 6 gene (TBX6) included in the deletion region, but did not detect any mutation. This suggests that haploinsufficiency of TBX6 can lead to vertebral m...
Source: European Journal of Medical Genetics - September 17, 2009 Category: Genetics & Stem Cells Authors: Shimojima K, Inoue T, Fujii Y, Ohno K, Yamamoto T Tags: Eur J Med Genet Source Type: journals

Challenges for CNV interpretation in clinical molecular karyotyping: Lessons learned from a 1001 sample experience.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Molecular karyotyping has moved from bench to bedside for the genetic screening of patients with mental retardation and/or congenital anomalies. The commercial availability of high-resolution microarray platforms has significantly facilitated this process. However, the notion that copy number variants are also abundantly present in the general population challenges the interpretation of the clinical significance of detected copy number variants (CNVs) in these patients. Moreover, the awareness of incomplete penetrance and variable expression, exemplified by the inheritance of causal CNVs from apparently unaffected pare...
Source: European Journal of Medical Genetics - September 14, 2009 Category: Genetics & Stem Cells Authors: Buysse K, Chiaie BD, Van Coster R, Loeys B, De Paepe A, Mortier G, Speleman F, Menten B Tags: Eur J Med Genet Source Type: journals

Obstructive apneas and severe dysphagia in a girl with townes-brocks syndrome and atypical feet involvement.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
This report adds another rare, but serious manifestation to the multiorgan involvement found in TBS. PMID: 19737635 [PubMed - as supplied by publisher] (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - September 4, 2009 Category: Genetics & Stem Cells Authors: van Bever Y, Gischler SJ, Hoeve HL, Smit LS, Nauta J, Dooijes D Tags: Eur J Med Genet Source Type: journals

Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We report on two families in which the parental origin of duplications of the BWS imprinted regions on chromosome 11p15 influences the phenotype. In family A the transmission of a t(4;11)(q35;p15.5) translocation results in duplication of BWSIC1 and BWSIC2. If this duplication is transmitted from the father, the extra chromosomal material has the paternal imprint. This results in overexpression of IGF2 and consequently an overgrowth phenotype. If the duplication is transmitted from the mother, the extra chromosomal material has the maternal imprint, resulting in overexpression of CDKN1C and a growth retardation phenotype. ...
Source: European Journal of Medical Genetics - September 3, 2009 Category: Genetics & Stem Cells Authors: Bliek J, Snijder S, Maas SM, Polstra A, van der Lip K, Alders M, Knegt AC, Mannens MM Tags: Eur J Med Genet Source Type: journals

2.3 Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate gene.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We describe a patient presenting with developmental delay, patent foramen ovale, moderate short QT interval, and facial dysmorphism including left microtia, preauricular tag and pit, wide left corner of the mouth, and left hemifacial microsomia, fitting with the oculoauriculovertebral spectrum. We identified a de novo 2.3 Mb deletion in the 12p13.33 region that contains eighteen genes. Amongst those, the WNT5B gene stands out as a possible candidate. However, we did not find any mutation of this gene neither in our patient nor in a series of 53 OAVS patients. The CACNA1C gene is interrupted by the centromeric breakpoint of...
Source: European Journal of Medical Genetics - September 1, 2009 Category: Genetics & Stem Cells Authors: Rooryck C, Stef M, Burgelin I, Simon D, Souakri N, Thambo JB, Chateil JF, Lacombe D, Arveiler B Tags: Eur J Med Genet Source Type: journals

Monozygotic twins discordant for vascular malformations and dysregulated growth.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We report on three monozygotic female twins who are discordant for a VM-DG syndrome resembling KTS. We suggest that our observation is consistent with the concept of polygenic paradominant inheritance involving two or more genes. We discuss the published observations in twins discordant for other disorders associated with disturbed growth regulation such as Beckwith-Wiedemann syndrome and Silver-Russell syndrome, and the occurrence in cousins with KTS and Beckwith-Wiedemann syndrome, which are best explained by an imprinting disturbance. We propose that, similarly, disturbed imprinting plays a role in the pathogenesis of V...
Source: European Journal of Medical Genetics - August 26, 2009 Category: Genetics & Stem Cells Authors: Oduber CE, Bliek J, van der Horst CM, van Steensel MA, Hennekam RC Tags: Eur J Med Genet Source Type: journals

Megalocornea - Uriticaria Pigmentosa Syndrome - a New Syndrome?Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We describe a Finnish boy with megalocornea, urticaria pigmentosa, mild delay in speech and motor development, and slightly dysmorphic facial features. The karyotype and the array-CGH analysis did not reveal any abnormalities. This combination of symptoms has not been reported previously suggesting this might be a new syndrome with an unknown etiology. PMID: 19706342 [PubMed - as supplied by publisher] (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - August 21, 2009 Category: Genetics & Stem Cells Authors: Kristiina A, Reija A, Maria H, Olavi P Tags: Eur J Med Genet Source Type: journals

Interpreting humanity's genes.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Genetic medicine is said to be entering another era. Recent technological developments such as high resolution array techniques and next-generation sequencing have dramatically increased the power of genetic testing. However, the function of the majority of genes remains unknown. The complex interactions underpinning gene expression in humans can be studied only in part by laboratory and animal studies, and will only be possible by studies in humans. Consequently, observational studies which systematically record human phenotype data are urgently needed to interpret molecular genetic variation. PMID: 19679203 [PubM...
Source: European Journal of Medical Genetics - August 9, 2009 Category: Genetics & Stem Cells Authors: Shaw AC, Hennekam RC Tags: Eur J Med Genet Source Type: journals

Two sporadic spinal neurofibromatosis patients with malignant peripheral nerve sheath tumour.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We analyzed two unrelated male patients in whom neurofibromatosis type 1 (NF1) was not suspected until they presented with malignant peripheral nerve sheath tumours (MPNSTs) in their thirties and forties, respectively. Patient A presented with progressive peroneus paresis due to a rapidly growing MPNST in the thigh. MRI examination revealed multiple symmetrical spinal neurofibromas in this patient as well as in patient B who presented at the age of 42 with paraparesis and an MPNST at spinal level L4. Dermal features in both patients were strikingly mild, therefore both patients were considered belonging to the NF1-subf...
Source: European Journal of Medical Genetics - August 5, 2009 Category: Genetics & Stem Cells Authors: Fauth C, Kehrer-Sawatzki H, Zatkova A, Machherndl-Spandl S, Messiaen L, Amann G, Hainfellner JA, Wimmer K Tags: Eur J Med Genet Source Type: journals

Early onset, multiple primary malignancies, and poor prognosis are indicative of an inherited predisposition to esophageal squamous cell carcinoma for the familial as opposed to the sporadic cases - An update on over 14-year survival.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
CONCLUSION: These findings suggest the existence of familial as opposed to the sporadic ESCC. By the theory of "two-hit" origin of cancer, these findings also suggest that the "first hit", a genetic predisposition, is inherited in familial ESCC. PMID: 19632364 [PubMed - as supplied by publisher] (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - July 24, 2009 Category: Genetics & Stem Cells Authors: Wen D, Wang S, Zhang L, Wei L, Zhou W, Peng Q Tags: Eur J Med Genet Source Type: journals

Refining the clinicopathological pattern of cerebral proliferative glomeruloid vasculopathy (Fowler Syndrome): Report of 16 fetal cases.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Cerebral proliferative glomeruloid vasculopathy (PGV) is a severe disorder of brain angiogenesis, resulting in abnormally thickened and aberrant perforating vessels, forming glomeruloids with inclusion-bearing endothelial cells. This peculiar vascular malformation was delineated by Fowler in 1972 as a stereotyped lethal fetal phenotype associating hydranencephaly-hydrocephaly with limb deformities, called Fowler syndrome (FS) or "proliferative vasculopathy and hydranencephaly-hydrocephaly" or "encephaloclastic proliferative vasculopathy" (OMIM # 2255790). In PGV, the disruptive impact of vascular malformation on the de...
Source: European Journal of Medical Genetics - July 23, 2009 Category: Genetics & Stem Cells Authors: Bessières-Grattagliano B, Foliguet B, Devisme L, Loeuillet L, Marcorelles P, Bonnière M, Laquerrière A, Fallet-Bianco C, Martinovic J, Zrelli S, Leticee N, Cayrol V, Etchevers HC, Vekemans M, Attie-Bitach T, Encha-Razavi F Tags: Eur J Med Genet Source Type: journals

Screening for genomic variants in ZFP57 in Silver-Russell syndrome patients with 11p15 epimutations.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In conclusion, this study does not provide evidence that ZFP57 mutations are the cause of 11p15-hypomethylation in SRS patients and contribute to the aetiology of SRS. PMID: 19632365 [PubMed - as supplied by publisher] (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - July 22, 2009 Category: Genetics & Stem Cells Authors: Spengler S, Gogiel M, Schönherr N, Binder G, Eggermann T Tags: Eur J Med Genet Source Type: journals

Clinical and molecular overview of inherited disorders resulting from epigenomic dysregulation.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Epigenetics is the study of heritable changes in gene expression that occur without a change in the DNA sequence. Most constitutional defects in genes encoding components of the machinery that regulates the epigenome lead to embryonic death. Hypomorphic mutations may be compatible with life, but lead to severe developmental disorders. Their study is of great importance to our understanding of epigenetics and may clarify the interplay between different epigenetic mechanisms. This review will briefly introduce DNA methylation, post-translational histone modifications, and non-coding small RNA transcription, which are the...
Source: European Journal of Medical Genetics - July 22, 2009 Category: Genetics & Stem Cells Authors: De Sario A Tags: Eur J Med Genet Source Type: journals

Hydrops fetalis and early neonatal multiple organ failure in familial hemophagocytic lymphohistiocytosis.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We report two siblings with FHLH caused by a PRF1 mutation. The first child died in utero with hydrops fetalis and the second presented soon after birth with fatal multiple organ failure. Post-mortem DNA analysis showed a homozygous c.666C>A (p.His222Gln) mutation in the PRF1 gene in both cases, with their non-consanguineous parents being heterozygous for the same mutation. Review of the literature shows that perinatal presentation of FHLH is rare. Diagnosis is difficult because in most cases histiologic examination reveals no hemophagocytosis and the disease is rapidly fatal. The association between hydrops fetalis and...
Source: European Journal of Medical Genetics - July 8, 2009 Category: Genetics & Stem Cells Authors: Vermeulen MJ, de Haas V, Mulder MF, Flohil C, Fetter WP, van de Kamp JM Tags: Eur J Med Genet Source Type: journals

MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Sotos syndrome (MIM #117550) is an autosomal dominant condition characterized by pre and postnatal overgrowth, macrocephaly and typical facial gestalt with frontal bossing, hypertelorism, antimongoloid slant of the palpebral fissures, prominent jaw and high and narrow palate. This syndrome is also frequently associated with brain, cardiovascular, and urinary anomalies and is occasionally accompanied by malignant lesions such as Wilms tumor and hepatocarcinoma. The syndrome is known to be caused by mutations or deletions of the NSD1 gene. To detect both 5q35 microdeletions and partial NSD1 gene deletions we screened 30 ...
Source: European Journal of Medical Genetics - July 7, 2009 Category: Genetics & Stem Cells Authors: Claudia F, Fernando K, Pablo N, Chong K, Débora B, Lílian A, Koiffmann Célia P Tags: Eur J Med Genet Source Type: journals

A 56-year-old female patient with facio-oculo-acoustico-renal syndrome (FOAR) syndrome. Report on the natural history and of a novel mutation.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The facio-oculo-acoustico-renal syndrome (FOAR) is a rare autosomal recessive syndrome characterized by the presence of dysmorphic facial features, ocular anomalies, sensorineural hearing loss, and proteinuria. Diaphragmatic hernia, exomphalos, absent or abnormal corpus callosum, and myopia, can also be part of the syndrome. The disorder is caused by mutations of the LRP2 gene located on chromosome 2q23.3-q31.1. We hereby report the case of a 56-year-old female patient with typical FOAR features. Molecular study of the LRP2 gene revealed the presence of a novel splice-site mutation. In addition to what was reported in ...
Source: European Journal of Medical Genetics - July 1, 2009 Category: Genetics & Stem Cells Authors: Stora S, Conte M, Chouery E, Richa S, Jalkh N, Gillart AC, de Joannis AL, Mégarbané A Tags: Eur J Med Genet Source Type: journals

A new mutation in COG7 extends the spectrum of COG subunit deficiencies.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We describe a patient homozygous for a novel mutation in COG7, coding for one of the subunits of the Conserved Oligomeric Golgi complex, involved in retrograde vesicular trafficking. His brother showed a similar clinical syndrome and glycosylation defect but no DNA could be obtained from this patient. This mutation, c.170-7A>G, activates a cryptic splice acceptor and leads to the insertion of 2 amino acids at protein level (p.56-57insAT). The insertion disturbs the structure and function of the Conserved Oligomeric Golgi complex. In comparison to the previously described patients with a different COG7 mutation, intraute...
Source: European Journal of Medical Genetics - July 1, 2009 Category: Genetics & Stem Cells Authors: Zeevaert R, Foulquier F, Cheillan D, Cloix I, Guffon N, Sturiale L, Garozzo D, Matthijs G, Jaeken J Tags: Eur J Med Genet Source Type: journals

4.5Mb Microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We report a 4.5Mb deletion of 2q33.1 in an individual with developmental delay and cleft palate. There have been various previous reports of deletions of 2q3, all with varying breakpoints and all larger than the current case. Whilst there is some variation in the phenotypes of patients with 2q3 deletions all share a commonly deleted region within 2q33.1 which includes SATB2, a gene previously shown to be associated with cleft palate. The phenotypic features of our patient are milder than those reported so far. PMID: 19576302 [PubMed - as supplied by publisher] (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - June 29, 2009 Category: Genetics & Stem Cells Authors: Urquhart J, Black GC, Clayton-Smith J Tags: Eur J Med Genet Source Type: journals

De novo 9 Mb deletion of 6q23.2q24.1 disrupting the gene EYA4 in a patient with sensorineural hearing loss, cardiac malformation, and mental retardation.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We report on a patient carrying a de novo interstitial deletion of chromosomal region 6q23.2-24.1. Interstitial deletions of 6q are rarely reported in the literature. Indeed, only four patients with interstitial deletions overlapping partially with the deleted region in our patient are described in the literature. The aberration was detected by GTG-banding. The size of the deletion was further refined by array-CGH and subsequently fine mapped by quantitative real-time PCR. The exact size of the deletion and the sequence composition of the breakpoints were determined by breakpoint spanning PCR and subsequent sequencing. The...
Source: European Journal of Medical Genetics - June 29, 2009 Category: Genetics & Stem Cells Authors: Dutrannoy V, Klopocki E, Wei R, Bommer C, Mundlos S, Luitgard-Neumann MG, Trimborn M Tags: Eur J Med Genet Source Type: journals

An interstitial deletion of 7.1 Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck and eye abnormalities.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Seven cases with an interstitial deletion of the short arm of chromosome 6 involving the 6p22 region have previously been reported. The clinical phenotype of these cases includes developmental delay, brain-, heart- and kidney defects, eye abnormalities, short neck, craniofacial, malformations, hypotonia, as well as clinodactyly or syndactyly. We here report a patient with a 7.1 Mb interstitial deletion of chromosome band 6p22.3, detected by genome-wide screening array CGH. The patient is a four-year-old girl with developmental delay and dysmorphic features including eye abnormalities, short neck and a ventricular septu...
Source: European Journal of Medical Genetics - June 29, 2009 Category: Genetics & Stem Cells Authors: Bremer A, Schoumans J, Nordenskjöld M, Anderlid BM, Giacobini M Tags: Eur J Med Genet Source Type: journals

Familial Sotos syndrome caused by a novel missense mutation, C2175S, in NSD1 and associated with normal intelligence, insulin dependent diabetes, bronchial asthma, and lipedema.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We report a familial Sotos syndrome in two children, boy and girl, aged 17 and 8 years, and in their 44 year old mother, who displayed normal intelligence at adult age, but suffered from insulin dependent diabetes mellitus, bronchial asthma, and severe lipedema. The underlying missense mutation, C2175S, occurred in a conserved segment of the NSD1 gene. Our findings confirm that familial cases of SS are more likely to carry missense mutations. This case report may prove useful to avoid underestimation of the recurrence rate of SS, and to demonstrate that the developmental delay may normalize, enabling an independent life an...
Source: European Journal of Medical Genetics - June 18, 2009 Category: Genetics & Stem Cells Authors: Zechner U, Kohlschmidt N, Kempf O, Gebauer K, Haug K, Engels H, Haaf T, Bartsch O Tags: Eur J Med Genet Source Type: journals

Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Investigations of apparently balanced chromosomal rearrangements in patients with abnormal phenotype by molecular cytogenetics tools, especially by array CGH, revealed a proportion of unsuspected imbalances. It was estimated recently that 40% of apparently balanced de novo translocations with abnormal phenotype were associated with cryptic deletion. We explored 47 unrelated mental retardation patients carrying an apparently balanced chromosomal rearrangement with high-resolution oligonucleotides arrays. We included 33 de novo cases (21 translocations, 7 inversions and 5 complex chromosomal rearrangements (CCR)) and 14 ...
Source: European Journal of Medical Genetics - June 5, 2009 Category: Genetics & Stem Cells Authors: Schluth-Bolard C, Delobel B, Sanlaville D, Boute O, Cuisset JM, Sukno S, Labalme A, Duban-Bedu B, Plessis G, Jaillard S, Dubourg C, Henry C, Lucas J, Odent S, Pasquier L, Copin H, Latour P, Cordier MP, Nadeau G, Till M, Edery P, Andrieux J Tags: Eur J Med Genet Source Type: journals

Atypical deletion of 22q11.2: Detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Despite the heterogeneous clinical presentations, the majority of patients with 22q11.2 deletion syndrome (22q11.2 DS) have either a common recurrent 3 Mb deletion or a less common, 1.5 Mb nested deletion, with breakpoint sites in flanking low-copy repeats (LCR) sequences. Only a small number of atypical deletions have been reported and precisely defined. Haploinsufficiency of the TBX1 gene was determined to be the likely cause of 22q11.2 DS. The diagnostic procedure usually used is FISH using commercially probes (N25 or TUPLE1). However, this test does not contain TBX1, and fails to detect deletions that are either pr...
Source: European Journal of Medical Genetics - May 22, 2009 Category: Genetics & Stem Cells Authors: Beaujard MP, Chantot S, Dubois M, Keren B, Carpentier W, Mabboux P, Whalen S, Vodovar M, Siffroi JP, Portnoï MF Tags: Eur J Med Genet Source Type: journals

Ligase IV syndrome.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Ligase IV (LIG4) syndrome belongs to the group of hereditary disorders associated with impaired DNA damage response mechanisms. Subjects affected with this rare autosomal recessive disease exhibit microcephaly, unusual facial features, growth retardation, developmental delay, skin anomalies, and are typically pancytopenic. The disease is characterized by pronounced radiosensitivity, genome instability, malignancy, immunodeficiency, and bone marrow abnormalities. LIG4 syndrome results from mutations in the DNA ligase IV gene encoding an enzyme that plays a pivotal role in repairing double strand DNA breaks and V(D)J rec...
Source: European Journal of Medical Genetics - May 22, 2009 Category: Genetics & Stem Cells Authors: Chistiakov DA, Voronova NV, Chistiakov AP Tags: Eur J Med Genet Source Type: journals

The etiology of congenital diaphragmatic hernia: Still largely unknown?Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Congenital diaphragmatic hernia (CDH) is a severe birth defect characterized by a defect in the diaphragm associated with pulmonary hypoplasia and postnatal pulmonary hypertension. Half of the cases present with other non-pulmonary congenital anomalies (so called non-isolated CDH) and in 5-10% of cases there is a chromosomal etiology. The clinical aspects of CDH are well documented but knowledge on the etiology of CDH is largely lacking. Worldwide many researchers have focused research efforts on CDH. Their findings have led to several hypotheses proposing roles for genetic and environmental factors. In this review we ...
Source: European Journal of Medical Genetics - May 20, 2009 Category: Genetics & Stem Cells Authors: Klaassens M, de Klein A, Tibboel D Tags: Eur J Med Genet Source Type: journals

Germline mutations in the von Hippel-Lindau gene in Italian patients.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign tumours, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma, pheochromocytoma, and pancreatic tumours. The current study investigated the occurrence of VHL mutations in Italian patients with classic VHL disease or with atypical VHL-like clinical features referred to the Service of Medical Genetics for VHL molecular diagnosis. In addition, an RQ-PCR protocol was validated in order to introduce it in the routine VHL laboratory diagnosis. PMID: 194643...
Source: European Journal of Medical Genetics - May 20, 2009 Category: Genetics & Stem Cells Authors: Ciotti P, Garuti A, Gulli R, Ballestrero A, Bellone E, Mandich P Tags: Eur J Med Genet Source Type: journals

Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Brachydactyly type A1 (BDA1; MIM 112500) is characterized by shortness or absence of the middle phalanx of the hands and feet. The condition is caused by heterozygous mutations in the Indian hedgehog (IHH) gene or a yet unidentified gene on chromosome 5p13. We investigated six affected members of a large Swedish family segregating autosomal dominant brachymesophalangia. Affected individuals show hypoplasia of the ulnar styloid processes, ulna minus, osteoarthritis, normal length of all distal phalanges and shortening or absence of the middle phalanges. Stationary ossicles or sesamoid bones were observed at the metacarp...
Source: European Journal of Medical Genetics - May 20, 2009 Category: Genetics & Stem Cells Authors: Stattin EL, Lindén B, Lönnerholm T, Schuster J, Dahl N Tags: Eur J Med Genet Source Type: journals

An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Chromosome analysis in two young patients with multiple congenital anomalies revealed a de novo interstitial deletion of 8q that has not been reported before. The deletions were overlapping by 8.35 Mb (8q24.21q24.23). The clinical features shared by our patients were coloboma, VSD, digital abnormalities, congenital dislocation of a hip, feeding problems, psychomotor delay and convulsions. The deletion included the region for Langer-Giedion syndrome (TRPS1 and EXT1) in the girl only. However, she is too young to present features of this syndrome, apart from dysmorphic features like a bulbous nose and notched alae nasi. ...
Source: European Journal of Medical Genetics - May 20, 2009 Category: Genetics & Stem Cells Authors: Verheij JB, de Munnik SA, Dijkhuizen T, de Leeuw N, Olde Weghuis D, van den Hoek GJ, Rijlaarsdam RS, Thomasse YE, Dikkers FG, Marcelis CL, van Ravenswaaij-Arts CM Tags: Eur J Med Genet Source Type: journals

3q29 interstitial microdeletion syndrome: An inherited case associated with cardiac defect and normal cognition.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
An inherited, interstitial subtelomere deletion of approximately 1.3-1.4 Mb at 3q29 was identified in a patient and his father utilizing BAC array comparative genomic hybridization (a-CGH). The imbalance was located within the common 3q29 microdeletion syndrome region and shared the distal breakpoint with prior published cases. However, our patient was developmentally normal at 6 months of age and his father is a functional adult, who had mild developmental delay in childhood. They presented with congenital cardiac defects including patent ductus arteriosus. In addition, the patient had subvalvular aortic stenosis and ...
Source: European Journal of Medical Genetics - May 18, 2009 Category: Genetics & Stem Cells Authors: Li F, Lisi EC, Wohler ES, Hamosh A, Batista DA Tags: Eur J Med Genet Source Type: journals

Molecular genetic screening of MBS1 locus on chromosome 13 for microdeletions and exclusion of FGF9, GSH1 and CDX2 as causative genes in patients with Moebius syndrome.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Moebius syndrome is a rare disorder primarily characterized by congenital facial palsy, frequently accompanied by ocular abduction anomalies, and occasionally associated with orofacial, limb and musculoskeletal malformations. Abnormal development of cranial nerves V through XII underlines the disease pathogenesis. Although some investigations suggested that a causative gene may lie on 13q12.2-q13, there have been no molecular studies targeting possible microdeletions in this region to date. In the present study, we performed microdeletion analyses on 13q12.11-q13 in nine patients, and sequenced three candidate genes in...
Source: European Journal of Medical Genetics - May 18, 2009 Category: Genetics & Stem Cells Authors: Uzumcu A, Karaman B, Toksoy G, Uyguner ZO, Candan S, Eris H, Tatli B, Geckinli B, Yuksel A, Kayserili H, Basaran S Tags: Eur J Med Genet Source Type: journals

C329X in KRIT1 is a founder mutation among CCM patients in Sardinia.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Cerebral cavernous malformations (CCMs) are CNS vascular anomalies associated with seizures, headaches and hemorrhagic strokes and represent 10-20% of cerebral lesions. CCM is present in 0.1-0.5 of the population. This disorder most often occurs sporadically but may also be familial. Familial cases are inherited as a dominant trait with incomplete penetrance and are estimated to account for KRIT1 10-40% of the patients. The identification of the genes involved in such disorders allows to characterize carriers of the mutations without clear symptoms. The first gene involved in CCM1 is KRIT1. In addition to two other gen...
Source: European Journal of Medical Genetics - May 17, 2009 Category: Genetics & Stem Cells Authors: Cau M, Loi M, Melis M, Congiu R, Loi A, Meloni C, Serrenti M, Addis M, Melis MA Tags: Eur J Med Genet Source Type: journals

Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
CONCLUSIONS: These data highlight the difficulty of performing an appropriate test aimed at looking for cryptic 22q13.3 deletion. Furthermore, the molecular characterization of this interstitial 22q13.3 deletion contributes to the clinical and genetic delineation of the 22q13.3 deletion syndrome. PMID: 19454329 [PubMed - as supplied by publisher] (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - May 17, 2009 Category: Genetics & Stem Cells Authors: Delahaye A, Toutain A, Aboura A, Dupont C, Tabet AC, Benzacken B, Elion J, Verloes A, Pipiras E, Drunat S Tags: Eur J Med Genet Source Type: journals

Hereditary leukonychia totalis, acanthosis-nigricans-like lesions and hair dysplasia: A new syndrome?Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We report an original observation of hereditary leukonychia totalis in a father and two of his children, associated with acanthosis-nigricans-like lesions and hair dysplasia. These symptoms were also present in eight other members of the same family. PMID: 19401242 [PubMed - as supplied by publisher] (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - May 3, 2009 Category: Genetics & Stem Cells Authors: Le Corre Y, Steff M, Croue A, Filmon R, Verret JL, Le Clech C Tags: Eur J Med Genet Source Type: journals

Associated malformations in patients with esophageal atresia.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Esophageal atresia is a common type of congenital malformation. The etiology of esophageal atresia is unclear and its pathogenesis is controversial. Because previous reports have inconsistently noted the type and frequency of malformations associated with esophageal atresia, we conducted this study in a geographically well-defined population, evaluating the birth prevalence of esophageal atresia and associated malformations ascertained between 1979 and 2003 in 334,262 consecutive births. Of the 99 patients with esophageal atresia, 46 (46.5%) had associated malformations. These included patients with chromosomal abnorma...
Source: European Journal of Medical Genetics - May 2, 2009 Category: Genetics & Stem Cells Authors: Stoll C, Alembik Y, Dott B, Roth MP Tags: Eur J Med Genet Source Type: journals

Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We report on a patient with LEOPARD syndrome and normal intelligence who was found to carry a novel sequence change in BRAF. The mutation p.L245F was demonstrated to be de novo with no evidence of somatic mosaicism. This observation illustrates that the phenotypic spectrum caused by BRAF mutations is broader than previously assumed and that mental retardation is not necessarily associated. We speculate that the impact of p.L245F on BRAF protein function differs either qualitatively or quantitatively from those mutations associated with CFCS. PMID: 19416762 [PubMed - as supplied by publisher] (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - May 2, 2009 Category: Genetics & Stem Cells Authors: Koudova M, Seemanova E, Zenker M Tags: Eur J Med Genet Source Type: journals

Aplasia cutis congenita, terminal limb defects and periventricular leukomalacia in one sibling with minor findings in the other-probable autosomal recessive Adams-Oliver Syndrome.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We report on siblings with probable Adams-Oliver syndrome. The older brother had symmetric intra-uterine growth retardation, plagiocephaly, a cardiac defect and periventricular calcification. The younger sister was born with abdominal and scalp skin defects and small fingers and toes. Prenatal cranial imaging in the younger sibling suggested possible bilateral closed lip schizencephaly and neuronal migrational defect. These siblings are thought to have Adams-Oliver syndrome with the older sibling's features at the milder end of the spectrum while the younger sibling is more severely affected. Several case reports have been...
Source: European Journal of Medical Genetics - May 2, 2009 Category: Genetics & Stem Cells Authors: Balasubramanian M, Collins AL Tags: Eur J Med Genet Source Type: journals

Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Moderate mental retardation (MR) could affect up to 3% of the general population. A proportion of these cases has a genetic origin. Genes responsible for mental retardation can be identified taking advantage of familial cases or patients carrying a chromosomal rearrangement. We have studied a female patient with mild mental retardation and dysmorphic features. Cytogenetic and molecular investigations revealed a de novo balanced translocation 46, XX, t(5;18)(q21.3;q21.32) in the patient. The karyotypes of the parents are normal. We mapped the breakpoints of the translocation on chromosomes 5 and 18 by fluorescence in si...
Source: European Journal of Medical Genetics - April 17, 2009 Category: Genetics & Stem Cells Authors: Haddad MR, Mignon-Ravix C, Cacciagli P, Mégarbané A, Villard L Tags: Eur J Med Genet Source Type: journals

Paternally derived der(7)t(Y;7)(p11.1 approximately 11.2;p22.3)dn in a mosaic case with Turner syndrome.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
An unusual mosaic karyotype was detected in a 6-year-old female patient with clinical diagnosis of Turner syndrome (TS). Cytogenetic and molecular cytogenetic studies revealed besides a cell line with 45,X a second cell line where the short arm of the Y-chromosome was translocated onto the short arm of a chromosome 7; karyotype: 45,X,der(7)t(Y;7)(p11.1 approximately 11.2;p22.3)/45,X. To delineate the mechanisms of rearrangement and karyotypic evolution in this case, further studies were performed. A maternal origin of the X-chromosome and biparental origin of both chromosomes 7 were determined by microsatellite analysi...
Source: European Journal of Medical Genetics - April 15, 2009 Category: Genetics & Stem Cells Authors: Polityko AD, Khurs OM, Kulpanovich AI, Mosse KA, Solntsava AV, Rumyantseva NV, Naumchik IV, Liehr T, Weise A, Mkrtchyan H Tags: Eur J Med Genet Source Type: journals

Radial aplasia in CHARGE syndrome: A new association.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
CHARGE syndrome affects up to 1 in 8500 births, and is most commonly due to de novo truncating mutations in the CHD7 gene. In addition to the 4 major (choanal atresia, coloboma, cranial nerve dysfunction and characteristic ear abnormalities) and 7 minor features (genital hypoplasia, developmental delay, cardiac anomalies, growth retardation, orofacial clefting, tracheo-oesophageal fistula and characteristic facies) proposed by Blake et al. [K.D. Blake, S.L.H. Davenport, B.D. Hall, M.A. Hefner, R.A. Pagon, M.S. Williams, A.E. Lin, J.M. Graham Jr., CHARGE association: an update and review for the primary pediatrician, Cl...
Source: European Journal of Medical Genetics - April 15, 2009 Category: Genetics & Stem Cells Authors: Wright EM, O'Connor R, Kerr BA Tags: Eur J Med Genet Source Type: journals