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700 records returned

X-linked myopathy: when autophagy goes wrong.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification Ramachandran et al. (2009) Cell 137: 235-246. PMID: 19912261 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - November 11, 2009 Category: Genetics & Stem Cells Authors: Mazarei G Tags: Clin Genet Source Type: journals

Same pathway, different gene: a second gene in the heme biosynthesis pathway causes inherited sideroblastic anemia.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Mutations in the mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia Guernsey et al. (2009) Nature Genetics 41: 6. PMID: 19912262 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - November 11, 2009 Category: Genetics & Stem Cells Authors: Petkau TL Tags: Clin Genet Source Type: journals

Large-scale sequencing to identify disease causing variants in X-linked mental retardation.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation Tarpey et al. (2009) Nature Genetics 41: 535-543. PMID: 19912263 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - November 11, 2009 Category: Genetics & Stem Cells Authors: Sanders SS Tags: Clin Genet Source Type: journals

BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin. Clin Genet. 2009 Nov 11; Authors: Infante M, Durán M, Acedo A, Pérez-Cabornero L, Sanz D, García-González M, Beristain E, Esteban-Cardeñosa E, de la Hoya M, Teulé A, Vega A, Tejada MI, Lastra E, Miner C, Velasco EA Infante M, Durán M, Acedo A, Pérez-Cabornero L, Sanz DJ, García-González M, Beristain E, Esteban-Cardeñosa E, de la Hoya M, Teulé A, Vega A, Tejada M-I, Lastra E, Miner C, Velasco EA. B...
Source: Clinical Genetics - November 11, 2009 Category: Genetics & Stem Cells Authors: Infante M, Durán M, Acedo A, Pérez-Cabornero L, Sanz D, García-González M, Beristain E, Esteban-Cardeñosa E, de la Hoya M, Teulé A, Vega A, Tejada MI, Lastra E, Miner C, Velasco EA Tags: Clin Genet Source Type: journals

SMARCB1/INI1 maternal germ line mosaicism in schwannomatosis.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In conclusion, our study shows for the first time that germ line mosaicism may occur in schwannomatosis, which has implications for genetic counseling in this disease. PMID: 19912265 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - November 11, 2009 Category: Genetics & Stem Cells Authors: Hulsebos TJ, Kenter SB, Jakobs ME, Baas F, Chong B, Delatycki MB Tags: Clin Genet Source Type: journals

The contribution of founder mutations to early-onset breast cancer in French-Canadian women.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In an ethnically-homogeneous population, it is valuable to identify founder mutations in cancer-predisposing genes. Founder mutations have been found in four breast-cancer-predisposing genes in French-Canadian breast cancer families. The frequencies of the mutant alleles have been measured neither in a large series of unselected breast cancer patients from Quebec, nor in healthy controls. These estimates are necessary to measure their contribution to the hereditary burden of breast cancer in Quebec and to help develop genetic screening policies which are appropriate for the province. We studied 564 French-Canadian wome...
Source: Clinical Genetics - October 30, 2009 Category: Genetics & Stem Cells Authors: Ghadirian P, Robidoux A, Zhang P, Royer R, Akbari M, Zhang S, Fafard E, Costa M, Martin G, Potvin C, Patocskai E, Larouche N, Younan R, Nassif E, Giroux S, Narod SA, Rousseau F, Foulkes WD Tags: Clin Genet Source Type: journals

Combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies and developmental delay: a new syndrome.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We report on sisters, born to consanguineous parents, with CID, facial dysmorphism, developmental delay, optic atrophy, myoclonic seizures, and skeletal anomalies. To the best of our knowledge, this is a hitherto new syndrome with most probably autosomal recessive inheritance and unknown etiology. PMID: 19863561 [PubMed - in process] (Source: Clinical Genetics)
Source: Clinical Genetics - October 30, 2009 Category: Genetics & Stem Cells Authors: Roifman CM, Chitayat D Tags: Clin Genet Source Type: journals

MEFV mutations in Iranian Azeri Turkish patients with familial Mediterranean fever.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder with more than 60 disease-associated mutations in the responsible gene, MEFV. In the present study, we determined 15 MEFV mutations in Iranian Azeri Turkish FMF patients. Five hundred and twenty-four unrelated patients were tested for 15 known mutations in the MEFV gene using amplification refractory mutation system-polymerase chain reaction and polymerase chain reaction-restriction fragment length polymorphism methods. Thirty-five different genotypes were characterized among the studied patients. Of the alleles investigated, the mos...
Source: Clinical Genetics - October 30, 2009 Category: Genetics & Stem Cells Authors: Bonyadi M, Esmaeili M, Jalali H, Somi MH, Ghaffari A, Rafeey M, Sakha K, Lotfalizadeh N, Pourhassan A, Khoshbaten M, Ardalan MR, Laghaeian N Tags: Clin Genet Source Type: journals

Analysis of the CTNS gene in 32 cystinosis patients from Spain.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 19863563 [PubMed - in process] (Source: Clinical Genetics)
Source: Clinical Genetics - October 30, 2009 Category: Genetics & Stem Cells Authors: Macías-Vidal J, Rodés M, Hernández-Pérez JM, Vilaseca MA, Coll MJ Tags: Clin Genet Source Type: journals

Sudden death: ethical and legal problems of post-mortem forensic genetic testing for hereditary cardiac diseases.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
This article discusses the ethical and legal arguments in favour of and against three options: genetic testing of the deceased victim only; counselling of relatives before testing the victim; counselling restricted to relatives of victims who tested positive for mutations of serious and preventable diseases. Legal cases are mentioned that pertain to the duty of geneticists and other physicians to warn relatives. Although the claim for a legal duty is tenuous, recent publications and guidelines suggest that geneticists and others involved in the multidisciplinary approach of sudden death (SD) cases may, nevertheless, have a...
Source: Clinical Genetics - October 23, 2009 Category: Genetics & Stem Cells Authors: Elger BS, Michaud K, Fellmann F, Mangin P Tags: Clin Genet Source Type: journals

Novel PORCN mutations in focal dermal hypoplasia.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In this report, we summarize the literature on PORCN mutations and associated phenotypes. PMID: 19863546 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - October 23, 2009 Category: Genetics & Stem Cells Authors: Froyen G, Govaerts K, Van Esch H, Verbeeck J, Tuomi ML, Heikkilä H, Torniainen S, Devriendt K, Fryns JP, Marynen P, Järvelä I, Ala-Mello S Tags: Clin Genet Source Type: journals

Screening and instability of FMR1 alleles in a prospective sample of 24,449 mother-newborn pairs from the general population.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Lévesque S, Dombrowski C, Morel M-L, Rehel R, Côté J-S, Bussières J, Morgan K, Rousseau F. Screening and instability of FMR1 alleles in a prospective sample of 24,449 mother-newborn pairs from the general population. To study the instability of FMR1 triplet repeats in the general population, we screened a prospective sample of 24,449 anonymized mother-offspring pairs and analyzed transmissions of intermediate-size (45-54 triplets) and premutation-size (55-200 triplets) alleles. We screened all mothers for alleles >/= 45 triplets by Southern blot and studied transmission of 545 maternal alleles to...
Source: Clinical Genetics - October 23, 2009 Category: Genetics & Stem Cells Authors: Lévesque S, Dombrowski C, Morel ML, Rehel R, Côté JS, Bussières J, Morgan K, Rousseau F Tags: Clin Genet Source Type: journals

Multiple spinal ganglioneuromas in a patient harboring a pathogenic NF1 mutation.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We describe a 32-year-old woman with multiple ganglioneuromas of the cervical, dorsal and lumbar spine associated with a few café-au-lait spots and subcutaneous nodules. The patient lacked other NF1 stigmata, such as freckling, Lisch nodules and cutaneous neurofibromas. Although our patient did not fulfill the NF1 diagnostic criteria, molecular diagnosis revealed a pathogenic mutation in the NF1 gene. Approximately 30 patients affected by NF1 and ganglioneuromas have been reported: in all these individuals, NF1 diagnosis was made according to the clinical diagnostic criteria and no patients have molecular diagnosis. T...
Source: Clinical Genetics - October 23, 2009 Category: Genetics & Stem Cells Authors: Bacci C, Sestini R, Ammannati F, Bianchini E, Palladino T, Carella M, Melchionda S, Zelante L, Papi L Tags: Clin Genet Source Type: journals

Detailed molecular and clinical characterization of three patients with 21q deletions.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Lindstrand A, Malmgren H, Sahlén S, Schoumans J, Nordgren A, Ergander U, Holm E, Anderlid BM,Blennow E. Detailed molecular and clinical characterization of three patients with 21q deletions. We have investigated three patients with 21q deletions, two with developmental delay, dysmorphic features and internal organ malformations, and one with cognitive function within the normal range but with some deficits in gross and fine motor development. All aberrations were characterized by array-comparative genomic hybridization (array-CGH). In addition, extensive fluorescence in situ hybridization (FISH) mapping on metapha...
Source: Clinical Genetics - October 23, 2009 Category: Genetics & Stem Cells Authors: Lindstrand A, Malmgren H, Sahlén S, Schoumans J, Nordgren A, Ergander U, Holm E, Anderlid BM, Blennow E Tags: Clin Genet Source Type: journals

Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Yoo E-H, Woo H, Ki C-S, Lee HJ, Kim D-K, Kang I-S, Park P, Sung K, Lee CS, Chung T-Y, Moon JR, Han H, Lee S-T, Kim J-W. Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation. Marfan syndrome (MFS) is an autosomal dominant disorder of the fibrous connective tissue caused by mutations in the fibrillin-1 (FBN1) gene. Although clinical and genetic analyses have been performed in various populations, there have been few studies in Korea. The aim of this study was to investigate the clinical characteristics and genetic background of Korean patients with M...
Source: Clinical Genetics - October 23, 2009 Category: Genetics & Stem Cells Authors: Yoo EH, Woo H, Ki CS, Lee HJ, Kim DK, Kang IS, Park P, Sung K, Lee CS, Chung TY, Moon JR, Han H, Lee ST, Kim JW Tags: Clin Genet Source Type: journals

Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia: experience from a single center prospective cohort.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Barahona-Dussault C, Benito B, Campuzano O, Iglesias A, Leung TL, Robb L, Talajic M, Brugada R. Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia: experience from a single center prospective cohort. In a cohort of patients with confirmed or suspected arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D), genetic testing is useful in confirming the diagnosis, particularly in individuals who do not completely fulfil Task Force criteria for the disease, thereby also enabling the adoption of preventive measures in family members. Due to the high percentage of novel mutations ...
Source: Clinical Genetics - October 23, 2009 Category: Genetics & Stem Cells Authors: Barahona-Dussault C, Benito B, Campuzano O, Iglesias A, Leung TL, Robb L, Talajic M, Brugada R Tags: Clin Genet Source Type: journals

Surveillance in von Hippel-Lindau disease (vHL).Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Poulsen MLM, Budtz-Jørgensen E, Bisgaard ML. Surveillance in von Hippel-Lindau disease (vHL). von Hippel-Lindau disease (vHL) is a hereditary multisystem cancer syndrome requiring lifelong prophylactic surveillance. Current surveillance recommendations rely on best medical judgement and no evidence of effect exists. We aimed to evaluate the capability of surveillance in manifestation detection, before these turn symptomatic, in order to prevent disabling or even fatal outcomes. We focus on surveillance of central nervous system (CNS) hemangioblastomas, retinal hemangiomas and renal cell carcinoma (RCC) as these ha...
Source: Clinical Genetics - October 23, 2009 Category: Genetics & Stem Cells Authors: Poulsen ML, Budtz-Jørgensen E, Bisgaard ML Tags: Clin Genet Source Type: journals

CFTR mutations in cystic fibrosis patients from Murcia region (southeastern Spain): implications for genetic testing.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 19845690 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - October 20, 2009 Category: Genetics & Stem Cells Authors: Moya-Quiles MR, Mondéjar-López P, Pastor-Vivero MD, González-Gallego I, Juan-Fita MJ, Egea-Mellado JM, Carbonell P, Casals T, Fernández-Sánchez A, Sánchez-Solís M, Glover G Tags: Clin Genet Source Type: journals

Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We present the clinical and molecular characterization of a family displaying features of both NS and NF1, with complete absence of neurofibromas. To investigate the etiology of the phenotype, mutational analysis of NF1 was conducted, revealing a novel missense mutation in exon 24, p.L1390F, affecting the GAP-domain. Additional RAS-MAPK pathway genes were examined, but no additional mutations were identified. We confirm that NF1 mutations are involved in the etiology of NFNS. Furthermore, based on our results and previous studies we suggest that evaluation of the GAP-domain of NF1 should be prioritized in NFNS. PMID: 1...
Source: Clinical Genetics - October 20, 2009 Category: Genetics & Stem Cells Authors: Nyström AM, Ekvall S, Allanson J, Edeby C, Elinder M, Holmström G, Bondeson ML, Annerén G Tags: Clin Genet Source Type: journals

Non-classic cystic fibrosis associated with D1152H CFTR mutation.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: When present in trans with a CF-causing mutation, D1152H causes significant pulmonary disease, but all subjects had prolonged survival. PMID: 19843100 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - October 14, 2009 Category: Genetics & Stem Cells Authors: Burgel PR, Fajac I, Hubert D, Grenet D, Stremler N, Roussey M, Siret D, Languepin J, Mely L, Fanton A, Labbé A, Domblides P, Vic P, Dagorne M, Reynaud-Gaubert M, Counil F, Varaigne F, Bienvenu T, Bellis G, Dusser D Tags: Clin Genet Source Type: journals

Mutation screening in patients for familial hypercholesterolaemia (ADH).Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 19843101 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - October 14, 2009 Category: Genetics & Stem Cells Authors: Taylor A, Patel K, Tsedeke J, Humphries SE, Norbury G Tags: Clin Genet Source Type: journals

Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
F, Thauvin-Robinet C Saal S, Faivre L, Aral B, Gigot N, Toutain A, Van Maldergem L, Destree A, Maystadt I, Cosyns J-P, Jouk P-S, Loeys B, Chauveau D, Bieth E, Layet V, Mathieu M, Lespinasse J, Teebi A, Franco B, Gautier E, Binquet C, Masurel-Paulet A, Mousson C, Gouyon J-B, Huet F, Thauvin-Robinet C. Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I. The oral-facial-digital syndrome type I (OFD I) is characterized by multiple congenital malformations of the face, oral cavity and digits. A polycystic kidney disease (PKD) is found in about one-third of patients but long-term out...
Source: Clinical Genetics - October 7, 2009 Category: Genetics & Stem Cells Authors: Saal S, Faivre L, Aral B, Gigot N, Toutain A, Van Maldergem L, Destree A, Maystadt I, Cosyns JP, Jouk PS, Loeys B, Chauveau D, Bieth E, Layet V, Mathieu M, Lespinasse J, Teebi A, Franco B, Gautier E, Binquet C, Masurel-Paulet A, Mousson C, Gouyon JB, Huet Tags: Clin Genet Source Type: journals

General practitioners' attitudes to assessment of genetic risk of common disorders in routine primary care.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
McCahon D, Holder R, Metcalfe A, Clifford S, Gill P, Cole T, Sleightholme HV, Wilson S. General practitioners' attitudes to assessment of genetic risk of common disorders in routine primary care. In 2003, the UK Department of Health set out the genetics white paper, a plan for action and investment with particular emphasis on integration of genetic health care into primary care. Since the delivery of the genetics white paper, there has been little exploration of UK primary care doctors' attitudes towards extending their role to include provision of routine genetics services. We explored explore general practitioners' (...
Source: Clinical Genetics - October 7, 2009 Category: Genetics & Stem Cells Authors: McCahon D, Holder R, Metcalfe A, Clifford S, Gill P, Cole T, Sleightholme HV, Wilson S Tags: Clin Genet Source Type: journals

Identification and functional analysis of novel mutations of the CLCNKB gene in Chinese patients with classic Bartter syndrome.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Yu Y, Xu C, Pan X, Ren H, Wang W, Meng X, Huang F, Chen N. Identification and functional analysis of novel mutations of the CLCNKB gene in Chinese patients with classic Bartter syndrome. Mutations in the gene CLCNKB encoding the ClC-Kb chloride channel causes classic Bartter syndrome, which is characterized by hypokalaemic metabolic alkalosis, renal salt loss, hyper-reninaemic hyperaldosteronism and normal blood pressure. We aimed to investigate the underlying mutations in CLCNKB in two Chinese patients with classic Bartter syndrome and then test the effect of the mutations on ClC-Kb chloride channel activity. Mutation...
Source: Clinical Genetics - October 5, 2009 Category: Genetics & Stem Cells Authors: Yu Y, Xu C, Pan X, Ren H, Wang W, Meng X, Huang F, Chen N Tags: Clin Genet Source Type: journals

CDKL5 truncation due to a t(X;2)(p22.1;p25.3) in a girl with X-linked infantile spasm syndrome.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 19807736 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - October 5, 2009 Category: Genetics & Stem Cells Authors: Córdova-Fletes C, Rademacher N, Müller I, Mundo-Ayala J, Morales-Jeanhs E, García-Ortiz J, León-Gil A, Rivera H, Domínguez M, Kalscheuer V Tags: Clin Genet Source Type: journals

Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Reinhardt K, Grapp M, Schlachter K, Brück W, Gärtner J, Steinfeld R. Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis. The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited lysosomal storage diseases and the prototype of childhood onset neurodegenerative disorders. To date, 10 NCL entities (CLN1-CLN10) are known and characterized by accumulation of autofluorescent storage material, age of onset and clinical symptoms. CLN8 was first identified as the causative gene for a late-onset form with progressive epilepsy and mental retardation ...
Source: Clinical Genetics - October 5, 2009 Category: Genetics & Stem Cells Authors: Reinhardt K, Grapp M, Schlachter K, Brück W, Gärtner J, Steinfeld R Tags: Clin Genet Source Type: journals

Genetic mutation in pontocerebellar hypoplasia.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 19807738 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - October 5, 2009 Category: Genetics & Stem Cells Authors: Ajibola A, Omar S, Friderici K Tags: Clin Genet Source Type: journals

Two novel AIRE mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) among Indians.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In conclusion, in this first series of APECED in Indians, we detected AIRE mutations previously reported in Caucasians, as well as unique mutations. Of these, p.V80G is possibly an ancestral mutation in an in-bred community. PMID: 19807739 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - October 5, 2009 Category: Genetics & Stem Cells Authors: Zaidi G, Sahu R, Zhang L, George G, Bhavani N, Shah N, Bhatia V, Bhansali A, Jevalikar G, Jayakumar R, Eisenbarth G, Bhatia E Tags: Clin Genet Source Type: journals

Chromosome imbalances in syndromic hearing loss.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Catelani ALPM, Krepischi ACV, Kim CA, Kok F, Otto PA, Auricchio MTBM, Mazzeu JF, Uehara DT, Costa SS, Knijnenburg J, Tabith Jr A, Vianna-Morgante AM, Mingroni-Netto RC, Rosenberg C. Chromosome imbalances in syndromic hearing loss. The cause of hearing impairment has not been elucidated in a large proportion of patients. We screened by 1-Mb array-based comparative genomic hybridization (aCGH) 29 individuals with syndromic hearing impairment whose clinical features were not typical of known disorders. Rare chromosomal copy number changes were detected in eight patients, four de novo imbalances and four inherited from a n...
Source: Clinical Genetics - October 5, 2009 Category: Genetics & Stem Cells Authors: Catelani A, Krepischi A, Kim C, Kok F, Otto P, Auricchio M, Mazzeu J, Uehara D, Costa S, Knijnenburg J, Tabith A, Vianna-Morgante A, Mingroni-Netto R, Rosenberg C Tags: Clin Genet Source Type: journals

Bilateral frontoparietal polymicrogyria (BFPP) syndrome secondary to a 16q12.1-q21 chromosome deletion involving GPR56 gene.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 19807741 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - October 5, 2009 Category: Genetics & Stem Cells Authors: Borgatti R, Marelli S, Bernardini L, Novelli A, Cavallini A, Tonelli A, Bassi MT, Dallapiccola B Tags: Clin Genet Source Type: journals

Five novel germline function-impairing mutations of CYLD in Italian patients with multiple cylindromas.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 19807742 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - October 5, 2009 Category: Genetics & Stem Cells Authors: Nasti S, Pastorino L, Bruno W, Gargiulo S, Battistuzzi L, Zavattaro E, Leigheb G, De Francesco V, Tulli A, Mari F, Scarrà GB, Ghiorzo P Tags: Clin Genet Source Type: journals

The ryanodine receptor type 1 gene variants in African American men with exertional rhabdomyolysis and malignant hyperthermia susceptibility.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Sambuughin N, Capacchione J, Blokhin A, Bayarsaikhan M, Bina S, Muldoon S. The ryanodine receptor type 1 gene variants in African American men with exertional rhabdomyolysis and malignant hyperthermia susceptibility. It has been suggested that exertional rhabdomyolysis (ER) and malignant hyperthermia (MH) are related syndromes. We hypothesize that patients with unexplained ER harbor mutations in the ryanodine receptor gene type 1 (RYR1), a primary gene implicated in MH, and therefore ER patients are at increased risk for MH. Although there are reported cases of MH in individuals of African descent, there are no data av...
Source: Clinical Genetics - October 5, 2009 Category: Genetics & Stem Cells Authors: Sambuughin N, Capacchione J, Blokhin A, Bayarsaikhan M, Bina S, Muldoon S Tags: Clin Genet Source Type: journals

Primary congenital glaucoma caused by the homozygous F261L CYP1B1 mutation and paternal isodisomy of chromosome 2.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
López-Garrido M-P, Campos-Mollo E, Harto M-A, Escribano J. Primary congenital glaucoma caused by the homozygous F261L CYP1B1 mutation and paternal isodisomy of chromosome 2. Primary congenital glaucoma (PCG), a rare, severe and blinding disease, usually results from mutations in the CYP1B1 gene located in chromosome 2p22.2. Uniparental isodisomy (UPID) is also a rare condition in which a diploid offspring carries two identical copies of a single parental chromosome. By DNA sequence analysis, we found that a proband (female newborn) affected by PCG was homozygous for the null-allele F261L of the CYP1B1 gene. Her fa...
Source: Clinical Genetics - October 5, 2009 Category: Genetics & Stem Cells Authors: López-Garrido MP, Campos-Mollo E, Harto MA, Escribano J Tags: Clin Genet Source Type: journals

Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
LoeschDZ, KhanianiMS, SlaterHR, RubioJP, BuiQM, KotschetK, D'SouzaW, VennA, KalitsisP, ChooAKH, BurgessT, JohnsonL, EvansA, HorneM. Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism. Fragile X-associated tremor/ataxia syndrome (FXTAS) affects older males carrying premutation, that is, expansions of the CGG repeat (in the 55-200 range), in the FMR1 gene. The neurological changes are linked to the excessive FMR1 messenger RNA (mRNA), becoming toxic through a 'gain-of-function'. Because elevated levels of this mRNA are also found in carriers of the smaller expansion (grey zone) alleles, rang...
Source: Clinical Genetics - September 30, 2009 Category: Genetics & Stem Cells Authors: Loesch DZ, Khaniani MS, Slater HR, Rubio JP, Bui QM, Kotschet K, D'Souza W, Venn A, Kalitsis P, Choo AK, Burgess T, Johnson L, Evans A, Horne M Tags: Clin Genet Source Type: journals

Juvenile hemochromatosis due to homozygosity for the G320V mutation in the HJV gene with fatal outcome.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 19796184 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - September 30, 2009 Category: Genetics & Stem Cells Authors: Brakensiek K, Fegbeutel C, Mälzer M, Strüber M, Kreipe H, Stuhrmann M Tags: Clin Genet Source Type: journals

Mutational screening of ACVR1 gene in Brazilian fibrodysplasia ossificans progressiva patients.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Carvalho DR, Navarro MMM, Martins BJAF, Coelho KEFA, Mello WD, Takata RI, Speck-Martins CE. Mutational screening of ACVR1 gene in Brazilian fibrodysplasia ossificans progressiva patients. Fibrodysplasia ossificans progressiva (FOP) is a severe genetic disorder reported worldwide. A specific heterozygous mutation (c.617G> A; p.R206H) in the activin A type I receptor gene (ACVR1) is regarded as the genetic cause of FOP in all classically affected individuals worldwide. However, a few patients with FOP variants harbor distinct mutations in ACVR1. We screened a group of FOP Brazilian population for mutations in ACVR1. O...
Source: Clinical Genetics - September 30, 2009 Category: Genetics & Stem Cells Authors: Carvalho DR, Navarro MM, Martins BJ, Coelho KE, Mello WD, Takata RI, Speck-Martins CE Tags: Clin Genet Source Type: journals

Novel B3GALTL mutation in Peters-plus Syndrome.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 19796186 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - September 30, 2009 Category: Genetics & Stem Cells Authors: Dassie-Ajdid J, Causse A, Poidvin A, Granier M, Kaplan J, Burglen L, Doummar D, Teisseire P, Vigouroux A, Malecaze F, Calvas P, Chassaing N Tags: Clin Genet Source Type: journals

Case report: de novo BRCA2 gene mutation in a 35-year-old woman with breast cancer.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In this report, we describe a patient with a de novo BRCA2 gene mutation (5301insA) who developed early onset breast cancer with no strong family history of the disease. Only three similar instances have been reported previously. Subsequent site-specific analysis in her parents showed that neither carried the mutation previously identified in their daughter. Various possible explanations for this finding were excluded. Paternity was confirmed using 13 highly polymorphic markers, thereby illustrating that the patient carried a de novo mutation in the BRCA2 gene. The 5301insA mutation has been well described and reported man...
Source: Clinical Genetics - September 30, 2009 Category: Genetics & Stem Cells Authors: Marshall M, Solomon S, Lawrence Wickerham D Tags: Clin Genet Source Type: journals

A novel missense mutation in the HAX1 gene in severe congenital neutropenia patients (Kostmann disease).Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 19796188 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - September 30, 2009 Category: Genetics & Stem Cells Authors: Faiyaz-Ul-Haque M, Al-Jefri A, Abalkhail HA, Toulimat M, Al-Muallimi MA, Pulicat MS, Gaafar A, Alaiya AA, Al-Dayel F, Peltekova I, Zaidi SH Tags: Clin Genet Source Type: journals

Cornelia de Lange syndrome, cohesin, and beyond.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Cornelia de Lange syndrome (CdLS) (OMIM #122470, #300590 and #610759) is a dominant genetic disorder with multiple organ system abnormalities which is classically characterized by typical facial features, growth and mental retardation, upper limb defects, hirsutism, gastrointestinal and other visceral system involvement. Mutations in three cohesin proteins, a key regulator of cohesin, NIPBL, and two structural components of the cohesin ring SMC1A and SMC3, etiologically account for about 65% of individuals with CdLS. Cohesin controls faithful chromosome segregation during the mitotic and meiotic cell cycles. Multiple p...
Source: Clinical Genetics - September 30, 2009 Category: Genetics & Stem Cells Authors: Liu J, Krantz ID Tags: Clin Genet Source Type: journals

Preimplantation genetic diagnosis.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Discussion must primarily focus on the conditions of exercising due caution in and the dynamics of PGD. PMID: 19793305 [PubMed - in process] (Source: Clinical Genetics)
Source: Clinical Genetics - September 30, 2009 Category: Genetics & Stem Cells Authors: Geraedts JP, De Wert GM Tags: Clin Genet Source Type: journals

Hereditary hair loss and the ancient signaling pathways that regulate ectodermal appendage formation.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
All epidermal appendages, including hair, teeth, and nails, begin as a thickening of the ectoderm, called a placode. The placode arises from a primary induction signal that is sent from the underlying mesenchyme to the overlying epidermis. In mammals, the precise arrangement of hair follicles in the skin is due to the amount and distribution of signals that promote and inhibit hair placode formation. Continued development of a hair follicle after placode formation requires a complex cross-talk between the mesenchyme and epidermis. Here, I will review recent studies in humans and mice that have increased our understandi...
Source: Clinical Genetics - September 30, 2009 Category: Genetics & Stem Cells Authors: Van Raamsdonk CD Tags: Clin Genet Source Type: journals

An ancient disorder under iron control.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 19793307 [PubMed - in process] (Source: Clinical Genetics)
Source: Clinical Genetics - September 30, 2009 Category: Genetics & Stem Cells Authors: Metzler M Tags: Clin Genet Source Type: journals

MicroRNAs become large in hearing loss.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 19793308 [PubMed - in process] (Source: Clinical Genetics)
Source: Clinical Genetics - September 30, 2009 Category: Genetics & Stem Cells Authors: Metzler M Tags: Clin Genet Source Type: journals

Diverse effects in Friedreich's ataxia place PGC-1alpha center-stage.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 19793309 [PubMed - in process] (Source: Clinical Genetics)
Source: Clinical Genetics - September 30, 2009 Category: Genetics & Stem Cells Authors: Metzler M Tags: Clin Genet Source Type: journals

Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In this study, we present four patients who implicate microcephalin 1 (MCPH1) in band 8p23.1 as an ASD susceptibility gene. Patient 1 was a girl with a syndromic form of autistic disorder satisfying the Autism Diagnostic Interview-Revised (ADI-R), Autism Diagnostic Observation Schedule (ADOS) and Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) criteria. Oligonucleotide aCGH (oaCGH) showed that she had a classic inv dup del(8)(qter-> p23.1::p23.1-> p21.2) containing at least three candidate genes; MCPH1 and DLGAP2 within the 6.9-Mb terminal deletion and NEF3 within the concomitant 14.1-Mb duplication. T...
Source: Clinical Genetics - September 30, 2009 Category: Genetics & Stem Cells Authors: Ozgen HM, van Daalen E, Bolton PF, Maloney VK, Huang S, Cresswell L, van den Boogaard MJ, Eleveld MJ, van 't Slot R, Hochstenbach R, Beemer FA, Barrow M, Barber JC, Poot M Tags: Clin Genet Source Type: journals

Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We report 11 additional de novo mutations in CDKL5 in female patients. For the first time, the MLPA approach allowed the identification of a partial deletion encompassing the promoter and the first two exons of CDKL5. The 10-point mutations consist of five missenses (with recurrent amino acid changes at p.Ala40 and p.Arg178), four splicing variants and a 1-base pair duplication. We present a review of all mutated alleles published in the literature. In our study, the overall frequency of mutations in CDKL5 in women with early-onset seizures is around 8.6%, a result comparable with previous reports. Noteworthy, the CDKL5 mu...
Source: Clinical Genetics - September 30, 2009 Category: Genetics & Stem Cells Authors: Nemos C, Lambert L, Giuliano F, Doray B, Roubertie A, Goldenberg A, Delobel B, Layet V, N'guyen MA, Saunier A, Verneau F, Jonveaux P, Philippe C Tags: Clin Genet Source Type: journals

An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In this study, 118 Latin American patients were examined for NCL using an integrated multidisciplinary program. This revealed two patients affected by CLN1 and nine by CLN2. Both CLN1 patients had a juvenile-onset phenotype with mutation studies of one patient demonstrating the known mutation p.Arg151X and a novel mutation in intron 3, c.363-3T>G. Six of the CLN2 patients presented with the 'classical' late-infantile phenotype. The remaining three patients, who were siblings, presented with a 'protracted' phenotype and had a higher level of residual TPP-1 activity than the 'classical' CLN2 patients. Genotype analysis of...
Source: Clinical Genetics - September 30, 2009 Category: Genetics & Stem Cells Authors: Kohan R, Cismondi IA, Kremer RD, Muller VJ, Guelbert N, Anzolini VT, Fietz MJ, Ramírez AM, Halac IN Tags: Clin Genet Source Type: journals

Dandy-Walker malformation in patients with KID syndrome associated with a heterozygote mutation (p.Asp50Asn) in the GJB2 gene encoding connexin 26.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We report 4 additional patients with KIDS and DWM, supporting the possibility that this is an association and not a coincidental finding. This also suggests that the GJB2 gene may have a role in other cases with DWM of, as yet, unknown etiology. PMID: 19793313 [PubMed - in process] (Source: Clinical Genetics)
Source: Clinical Genetics - September 30, 2009 Category: Genetics & Stem Cells Authors: Todt I, Mazereeuw-Hautier J, Binder B, Willems PJ Tags: Clin Genet Source Type: journals

Functional analysis of CYP1B1 mutations and association of heterozygous hypomorphic alleles with primary open-angle glaucoma.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
López-Garrido M-P, Blanco-Marchite C, Sánchez-Sánchez F, López-Sánchez E, Chaqués-Alepuz V, Campos-Mollo E, Salinas-Sánchez AS, Escribano J. Functional analysis of CYP1B1 mutations and association of heterozygous hypomorphic alleles with primary open-angle glaucoma. Glaucoma is an inherited complex and heterogeneous disease, and one of the most prevalent causes of definitive blindness in the world. Recent reports have indicated that heterozygous mutations of the CYTOCHOROME P4501B1 (CYP1B1) gene are present in 4-10% of patients with primary open-angle glaucoma (POAG). To further evalu...
Source: Clinical Genetics - September 27, 2009 Category: Genetics & Stem Cells Authors: López-Garrido MP, Blanco-Marchite C, Sánchez-Sánchez F, López-Sánchez E, Chaqués-Alepuz V, Campos-Mollo E, Salinas-Sánchez A, Escribano J Tags: Clin Genet Source Type: journals