Angelman SyndromeThis 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 your search results in order of date.

Pages: 1 2 3

150 records returned

Atp10a, a gene adjacent to the PWS/AS gene cluster, is not imprinted in mouse and is insensitive to the PWS-ICEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We report that Atp10a is biallelically expressed in both the newborn and adult brain, and Atp10a allelic expression is insensitive to deletion or mutation of the PWS imprinting center. The CpG island associated with Atp10a is hypomethylated, a result consistent with the notion that Atp10a is not an imprinted gene. Content Type Journal ArticleCategory ORIGINAL ARTICLEDOI 10.1007/s10048-009-0226-9Authors Amanda J. DuBose, University of Florida College of Medicine Department of Molecular Genetics and Microbiology Gainesville Florida 32610-0266 USAKaren A. Johnstone, Peninsula Medical School, University of Exeter Institut...
Source: Neurogenetics - November 5, 2009 Category: Genetics & Stem Cells Tags: neurogenetics Source Type: journals

Genomic imprinting disorders in humans: a mini-reviewEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Mammals inherit two complete sets of chromosomes, one from the father and one from the mother, and most autosomal genes are expressed from both maternal and paternal alleles. Imprinted genes show expression from only one member of the gene pair (allele) and their expression are determined by the parent during production of the gametes. Imprinted genes represent only a small subset of mammalian genes that are present but not imprinted in other vertebrates. Genomic imprints are erased in both germlines and reset accordingly; thus, reversible depending on the parent of origin and leads to differential ...
Source: Journal of Assisted Reproduction and Genetics - October 21, 2009 Category: Reproduction Medicine Tags: Journal of Assisted Reproduction and Genetics Source Type: journals

Prader–Willi and Angelman syndromes: genetic counselingEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Prader–Willi and Angelman syndromes: genetic counseling European Journal of Human Genetics advance online publication, October 7, 2009. doi:10.1038/ejhg.2009.170 Authors: Cristina Camprubí, Maria Dolors Coll, Elisabeth Gabau & Míriam Guitart (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - October 6, 2009 Category: Genetics & Stem Cells Authors: Cristina CamprubíMaria Dolors CollElisabeth GabauMíriam Guitart Source Type: journals

Impaired hippocampal plasticity and altered neurogenesis in adult Ube3a maternal deficient mouse model for Angelman syndrome.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Angelman syndrome (AS) is a severe neurodevelopmental disorder characterized by mental retardation, seizures and sleep disturbances. It results from lack of the functional maternal allele of UBE3A gene. Ube3a maternal-deficient mice (Ube3a m-/p+), animal models for AS, are impaired in hippocampal-dependent learning tasks as compared with control (Ube3a m+/p+) mice. We first examined the basal expression of immediate early genes which expression is required for synaptic plasticity and memory formation. We found that basal expression of c-fos and Arc genes is reduced in the DG of Ube3a maternal deficient mice compared to...
Source: Experimental Neurology - September 23, 2009 Category: Neurology Authors: Mardirossian S, Rampon C, Salvert D, Fort P, Sarda N Tags: Exp Neurol Source Type: journals

A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease [METHODS]Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Copy-number variants (CNVs) are substantial contributors to human disease. A central challenge in CNV-disease association studies is to characterize the pathogenicity of rare and possibly incompletely penetrant events, which requires the accurate detection of rare CNVs in large numbers of individuals. Cost and throughput issues limit our ability to perform these studies. We have adapted the Illumina BeadXpress SNP genotyping assay and developed an algorithm, SNP-Conditional OUTlier detection (SCOUT), to rapidly and accurately detect both rare and common CNVs in large cohorts. This approach is customizable, cost effective, ...
Source: Genome Research - August 31, 2009 Category: Genetics & Stem Cells Authors: Mefford, H. C., Cooper, G. M., Zerr, T., Smith, J. D., Baker, C., Shafer, N., Thorland, E. C., Skinner, C., Schwartz, C. E., Nickerson, D. A., Eichler, E. E. Tags: METHODS Source Type: journals

Abnormal myelination in Angelman syndrome.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 19720548 [PubMed - as supplied by publisher] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - August 28, 2009 Category: Neurology Authors: Castro-Gago M, Gómez-Lado C, Eirís-Puñal J, Rodríguez-Mugico VM Tags: Eur J Paediatr Neurol Source Type: journals

Imprinting Disorders and Assisted Reproductive TechnologyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Semin Reprod Med 2009; 27: 417-428DOI: 10.1055/s-0029-1237430ABSTRACTWorldwide use of assisted reproductive technology (ART) accounts for an estimated 1 to 3% of births. Since 2002, a series of reports have suggested an increased risk of imprinting disorders (Beckwith-Wiedemann syndrome and Angelman syndrome) in children conceived by ART. Definitive conclusions are difficult to substantiate due to the rarity of imprinting disorders and the variability in ART protocols. Despite these limitations, there is biological plausibility for alteration in nongenomic inheritance caused by ART. Animal studies have shown that ART proce...
Source: Seminars in Reproductive Medicine - August 27, 2009 Category: Reproduction Medicine Source Type: journals

Autism spectrum disorders in genetic syndromes: implications for diagnosis, intervention and understanding the wider autism spectrum disorder populationEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions There is a need for caution in interpreting the significance of superficial similarities between ASD and the behavioural phenotypes of certain genetically determined syndromes. However, recognition of ASD-like characteristics (even where a true diagnosis of ASD may not be relevant) in individuals with genetic syndromes is crucial in ensuring that individuals receive appropriate behavioural management and educational placement. Further research in this field requires fine-grained investigation of behavioural phenomenology within individual syndrome groups. (Source: Journal of Intellectual Disability Research)
Source: Journal of Intellectual Disability Research - August 25, 2009 Category: Disability Authors: J. Moss, P. Howlin Source Type: journals

Supernumerary marker chromosome 15 in a male with azoospermia and open bite deformity.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Supernumerary marker chromosome 15 (sSMC[15]) is the most frequent marker chromosome, and it is generally regarded as unimportant if it does not contain the Prader-Willi/Angelman syndrome critical region (PWACR). The clinical importance of the larger markers in association with the critical region is mentioned in almost all reports related to marker chromosome 15, and smaller markers are solely associated with minor dysmorphic features, azoospermia and recurrent miscarriages. However, these small sSMC(15)s without the PWACR may also determine a specific phenotype. A dysmorphic examination of an azoospermic patient in a...
Source: Asian Journal of Andrology - August 23, 2009 Category: Urology & Nephrology Authors: Koç A, Onur SO, Ergün MA, Perçin EF Tags: Asian J Androl Source Type: journals

Form and Function of Communicative Behaviours in Individuals with Angelman SyndromeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
There are only a few studies that have attempted to systematically document the communicative forms and functions in the repertoires of individuals with Angelman syndrome (AS). In the present study, we sent the Inventory of Potential Communicative Acts (IPCA) (Sigafoos et al. 2000a,b) to 136 families of children with AS. The IPCA aims to provide a systematic inventory and objective description of the communication forms and functions present in the child's repertoire. Seventy-nine surveys were returned and analyzed to determine differences in the number and types of communicative forms and functions in relation to the chil...
Source: Journal of Applied Research in Intellectual Disabilities - August 4, 2009 Category: Disability Authors: Robert Didden, Jeff Sigafoos, Hubert Korzilius, Astrid Baas, Giulio E. Lancioni, Mark F. O'Reilly, Leopold M. G. Curfs Source Type: journals

The ubiquitin proteasome system in neuropathologyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract The ubiquitin proteasome system (UPS) orchestrates the turnover of innumerable cellular proteins. In the process of ubiquitination the small protein ubiquitin is attached to a target protein by a peptide bond. The ubiquitinated target protein is subsequently shuttled to a protease complex known as the 26S proteasome and subjected to degradative proteolysis. The UPS facilitates the turnover of proteins in several settings. It targets oxidized, mutant or misfolded proteins for general proteolytic destruction, and allows for the tightly controlled and specific destruction of proteins involved in develo...
Source: Acta Neuropathologica - July 14, 2009 Category: Neurology Tags: Acta Neuropathologica Source Type: journals

[METHODS] A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive diseaseEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Copy-number variants (CNVs) are substantial contributors to human disease. A central challenge in CNV-disease association studies is to characterize the pathogenicity of rare and possibly incompletely penetrant events, which requires the accurate detection of rare CNVs in large numbers of individuals. Cost and throughput issues limit our ability to perform these studies. We have adapted the Illumina BeadXpress SNP genotyping assay and developed an algorithm, SNP-Conditional OUTlier detection (SCOUT), to rapidly and accurately detect both rare and common CNVs in large cohorts. This approach is customizable, cost effective, ...
Source: Genome Research - July 7, 2009 Category: Genetics & Stem Cells Authors: Mefford, H. C., Cooper, G. M., Zerr, T., Smith, J. D., Baker, C., Shafer, N., Thorland, E. C., Skinner, C., Schwartz, C. E., Nickerson, D. A., Eichler, E. E. Tags: METHODS Source Type: journals

A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease [METHODS]Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Copy-number variants (CNVs) are substantial contributors to human disease. A central challenge in CNV-disease association studies is to characterize the pathogenicity of rare and possibly incompletely penetrant events, which requires the accurate detection of rare CNVs in large numbers of individuals. Cost and throughput issues limit our ability to perform these studies. We have adapted the Illumina BeadXpress SNP genotyping assay and developed an algorithm, SNP-Conditional OUTlier detection (SCOUT), to rapidly and accurately detect both rare and common CNVs in large cohorts. This approach is customizable, cost effective, ...
Source: Genome Research - July 7, 2009 Category: Genetics & Stem Cells Authors: Mefford, H. C., Cooper, G. M., Zerr, T., Smith, J. D., Baker, C., Shafer, N., Thorland, E. C., Skinner, C., Schwartz, C. E., Nickerson, D. A., Eichler, E. E. Tags: METHODS Source Type: journals

Health Needs Annual Evidence Update 2009 - EpilepsyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The prevalence rate of epilepsy amongst people with learning disabilities is suggested as 22% compared to 0.4%-1% for the general population. Epilepsy occurs 15-30 times as often in people with learning disabilities (van Schrojenstein Lantman- Valk 2000; Espie et al 2003).The prevalence of epilepsy has been found to vary with the age of patients and aetiology of learning disability. There has been one new review published since January 2008 (Amiet et al 2008), a meta analysis which looked at epilepsy in autism and its association with learning disability and gender. Looking at published reports between 1963-2006 the a...
Source: Neurological Conditions Specialist Library - July 7, 2009 Category: Neurology Source Type: organizations

UBE3A/E6-AP regulates cell proliferation by promoting proteasomal degradation of p27.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The UBE3A/E6-AP is known to function both as an E3 ubiquitin ligase of the ubiquitin proteasome system and as a transcriptional coactivator. E6-AP shows brain-specific imprinting and loss of function of maternally inherited E6-AP causes Angelman syndrome. However, how the loss of function of E6-AP causes disease pathogenesis is poorly understood. Here, we show that E6-AP interacts with and promotes proteasome-mediated degradation of cyclin-dependent kinase inhibitor p27. E6-AP also directly ubiquitinates p27 in an in vitro ubiquitination assay. Partial knockdown of E6-AP increases the level of p27 leading to cell cycle...
Source: Neurobiology of Disease - July 6, 2009 Category: Neurology Authors: Mishra A, Godavarthi SK, Jana NR Tags: Neurobiol Dis Source Type: journals

[Genetics] Protein-binding elements establish in the oocyte the primary imprint of the Prader-Willi/Angelman syndromes domainEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Imprinting of the PWS/AS 2.4 Mb domain in the human is controlled by a paternally active imprinting center (PWS-IC). PWS-IC... (Source: Proceedings of the National Academy of Sciences)
Source: Proceedings of the National Academy of Sciences - June 22, 2009 Category: Science Authors: Kaufman, Y., Heled, M., Perk, J., Razin, A., Shemer, R. Tags: Genetics Source Type: journals

Angelman Syndrome Foundation Request for ProposalsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Application Submission Deadline: July 15, 2009The Angelman Syndrome Foundation announces the availability of up to $670,000 (USD) to be awarded in support of research on Angelman syndrome.Angelman syndrome is a neurodevelopmental disorder caused by deficiency of the ubiquitin protein ligase UBE3A in the brain. Applications related to any areas of research involving Angelman syndrome will be considered.Highest priority will be given to pilot projects to test new ideas about pathogenesis and therapeutics of Angelman syndrome. Researchers from all countries are encouraged to apply.One- or two-year grants will be awarded for...
Source: ScanGrants feed - June 10, 2009 Category: Research Authors: Angelman Syndrome Foundation Source Type: funding

[METHODS AND RESOURCES] A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive diseaseEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Copy-number variants (CNVs) are substantial contributors to human disease A central challenge in CNV-disease association studies is to characterize the pathogenicity of rare and possibly incompletely penetrant events - a task that requires the accurate detection of rare CNVs in large numbers of cases and controls. The high cost, low throughput, and inflexibility of currently available technologies limit our ability to perform these studies. We have adapted the Illumina BeadXpress SNP genotyping assay and developed an algorithm, Snp-Conditional OUTlier detection (SCOUT), to rapidly and accurately detect both rare and commo...
Source: Genome Research - June 8, 2009 Category: Genetics & Stem Cells Authors: Mefford, H. C., Cooper, G. M., Zerr, T., Smith, J. D., Baker, C., Shafer, N., Thorland, E. C., Skinner, C., Schwartz, C. E., Nickerson, D. A., Eichler, E. E. Tags: METHODS AND RESOURCES Source Type: journals

Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndromeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
& Thierry Bienvenu (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 27, 2009 Category: Genetics & Stem Cells Authors: Yann FichouNadia Bahi-BuissonJuliette NectouxJamel ChellyDelphine HéronLaurence CuissetThierry Bienvenu Source Type: journals

Neurogenetics: Protecting plasticityEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Nature 459, 303 (2009). doi:10.1038/459303b Nature Neurosci. doi:10.1038/nn.2327 (2009)Angelman syndrome is a form of mental retardation caused by mutations in the gene UBE3A. Scientists have discovered a role for the Ube3A protein that might explain the learning deficits associated with the disorder.Benjamin (Source: Nature)
Source: Nature - May 20, 2009 Category: Research Tags: Research Highlights Source Type: journals

Angelman syndrome (AS, MIM 105830)Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
ean-Pierre Fryns (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 20, 2009 Category: Genetics & Stem Cells Authors: Griet Van BuggenhoutJean-Pierre Fryns Source Type: journals

Epilepsy and the sleep–wake patterns found in Angelman syndromeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
This study examines seizure variables and sleep in a large AS cohort. Sleep disturbances and epilepsy were assessed in 290 individuals with AS using two questionnaires, including the Behavioral Evaluation of Disorders of Sleep (BEDS). Sensitivity to the sleeping environment, decreased nightly hours of sleep, and a difficulty initiating sleep were significantly correlated with the presence of epilepsy, particularly focal seizures. Use of multiple anticonvulsant drugs was shown to affect sleep. No significant associations were present between molecular subtypes of AS and individual sleep factors. Sleep problems appeared to b...
Source: Epilepsia - May 11, 2009 Category: Neurology Authors: Kerry D. Conant, Ronald L. Thibert, Elizabeth A. Thiele Source Type: journals

Epilepsy in Angelman syndrome: A questionnaire-based assessment of the natural history and current treatment optionsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Discussion: This is the largest study to date assessing epilepsy in AS. Although epilepsy in AS is considered a generalized epilepsy, there was a high prevalence of partial seizures. There are few previous data regarding the use of newer AED in AS, and the results of this study suggest that these newer agents, specifically levetiracetam and lamotrigine, may have efficacy similar to that of valproic acid and clonazepam, and that they appear to have similar or better side-effect profiles. Nonpharmacologic therapies such as dietary therapy and vagus nerve stimulation (VNS) also suggest favorable efficacy and tolerability, alt...
Source: Epilepsia - May 11, 2009 Category: Neurology Authors: Ronald L. Thibert, Kerry D. Conant, Eileen K. Braun, Patricia Bruno, Rana R. Said, Mark P. Nespeca, Elizabeth A. Thiele Source Type: journals

Preclinical Work Shows How One Gene Causes Severe Mental RetardationEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Researchers at Duke University Medical Center and the University of North Carolina have discovered in mice how a single disrupted gene can cause a form of severe mental retardation known as Angelman syndrome. (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - May 11, 2009 Category: Consumer Health News Tags: Autism Source Type: news

Preclinical work shows how one gene causes severe mental retardationEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(Duke University Medical Center) Researchers at Duke University Medical Center and the University of North Carolina have discovered in mice how a single disrupted gene can cause a form of severe mental retardation known as Angelman syndrome. In a Nature Neuroscience study, they found that the gene is needed so that neurons in the brain can form and adjust their connections to other neurons for storing sensory information. When the mice were deprived of sensory stimulation, the brain connections could be recovered, so treatments may be possible. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - May 10, 2009 Category: Global & Universal Source Type: news

UNC-Duke study: Impaired brain plasticity linked to Angelman syndrome learning deficitsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(University of North Carolina School of Medicine) How might disruption of a single gene in the brain cause the severe cognitive deficits associated with Angelman syndrome, a neurogenetic disorder? Researchers at the University of North Carolina at Chapel Hill School of Medicine and Duke University now believe they have the answer: impaired brain plasticity. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - May 10, 2009 Category: Global & Universal Source Type: news

Impaired Brain Plasticity Linked To Angelman Syndrome Learning DeficitsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
How might disruption of a single gene in the brain cause the severe cognitive deficits associated with Angelman syndrome, a neurogenetic disorder? Researchers now believe they have the answer: impaired brain plasticity. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - May 10, 2009 Category: Science Source Type: news

[Protein Synthesis, Post-Translational Modification, and Degradation] The Ubiquitin Ligase E6-AP Is Induced and Recruited to Aggresomes in Response to Proteasome Inhibition and May Be Involved in the Ubiquitination of Hsp70-bound Misfolded ProteinsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Cells are equipped with an efficient quality control system to selectively eliminate abnormally folded and damaged proteins. Initially the cell tries to refold the unfolded proteins with the help of molecular chaperones, and failure to refold leads to their degradation by the ubiquitin proteasome system. But how this proteolytic machinery recognizes the abnormally folded proteins is poorly understood. Here, we report that E6-AP, a HECT domain family ubiquitin ligase implicated in Angelman syndrome, interacts with the substrate binding domain of Hsp70/Hsc70 chaperones and promotes the degradation of chaperone bound substrat...
Source: Journal of Biological Chemistry - April 10, 2009 Category: Chemistry Authors: Mishra, A., Godavarthi, S. K., Maheshwari, M., Goswami, A., Jana, N. R. Tags: Protein Synthesis, Post-Translational Modification, and Degradation Source Type: journals

Split hand-foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion - evidence for further heterogeneity?Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We report on a male patient with SHFM, tetralogy of Fallot and a clinical phenotype suggestive of Angelman syndrome. Using array based genome analysis (3K BACs and 500K SNPs), we identified a de novo deletion of chromosome 19p13.11, confirmed by Fluorescent In Situ Hybridization analysis. The deletion is 0.99 Mb in size and contains 28 genes. The proximal breakpoint of the deletion is in EPS15L1, which may be involved in vertebrate limb development. Subsequent screening of 21 syndromic and nonsyndromic SHFM patients (TP73L mutation negative) for rearrangements using Multiplex Ligation-dependent Probe Amplification did not ...
Source: American Journal of Medical Genetics Part A - April 7, 2009 Category: Genetics & Stem Cells Authors: Emmelien Aten, Nicolette den Hollander, Claudia Ruivenkamp, Jeroen Knijnenburg, Hans van Bokhoven, Johan den Dunnen, Martijn Breuning Source Type: journals

43. EEG in the early diagnosis of Angelman syndromeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
lntroduction: Angelman Syndrome is a genetic disorder characterized clinically by psychomotor retardation, craniofacial dysmorphism, ataxia or puppet gait, prolonged and inappropriate paroxysms of laughter and epileptic seizures. The average age at diagnosis is six. Some specific EEG patterns have been described. (Source: Clinical Neurophysiology)
Source: Clinical Neurophysiology - April 1, 2009 Category: Neuroscience Authors: M. Garcia-Femandez, C. Garcia de Leonardo Egatz, E. Villalibre-Valderrey, F.J. Martinez-Orozco Tags: Society Proceedings: XLV Annual Meeting of the Spanish Society of Clinical Neurophysiology, Toledo, Spain, 16-18 October, 2007 Source Type: journals

Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We describe nine cases with a microdeletion at 15q11.2 between BP1-BP2, thus having a haploinsufficiency for TUBGCP5, NIPA1, NIPA2, and CYFIP1 without Prader-Willi/Angelman syndrome. The clinical significance of a pure BP1-BP2 microdeletion has been debated, however, our patients shared several clinical features, including delayed motor and speech development, dysmorphisms and behavioural problems (ADHD, autism, obsessive-compulsive behaviour). Although the deletion often appeared to be inherited from a normal or mildly affected parent, it was de novo in two cases and we did not find it in 350 healthy unrelated controls. O...
Source: European Journal of Medical Genetics - March 27, 2009 Category: Genetics & Stem Cells Authors: Doornbos M, Sikkema-Raddatz B, Ruijvenkamp C, Dijkhuizen T, Bijlsma EK, Gijsbers A, Hilhorst-Hofstee Y, Hordijk R, Verbruggen KT, Kerstjens-Frederikse WS, van Essen T, Kok K, van Silfhout AT, Breuning M, van Ravenswaaij-Arts CM Tags: Eur J Med Genet Source Type: journals

Genetic Imprinting: The Paradigm of Prader-Willi and Angelman Syndromes.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Imprinted genes are expressed from only one of the two parental alleles. A consequence of genomic imprinting is that viable embryos must receive two haploid genome complements from parents of opposite sex. The parental-specific expression is obtained through epigenetic modifications (DNA methylation, histone tail modifications) which alter the conformation of chromatin fiber and there-fore regulate the expression of the underlying genes. Deletions, duplication, mutations or alterations of imprinting of the only active allele, as well as uniparental disomy or loss of imprinting of the inactive allele lead to an unbalanc...
Source: Endocrine Development - March 20, 2009 Category: Endocrinology Authors: Gurrieri F, Accadia M Tags: Endocr Dev Source Type: journals

Two distinctive classic genetic syndromes, 22q11.2 deletion syndrome and Angelman syndrome, occurring within the same familyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We document a sib pair born to a mother with a reciprocal translocation, t(15;22)(q13;q11.2): the daughter had the Angelman syndrome phenotype associated with a maternally derived 15q deletion, and the son had a phenotype associated with a 22q deletion. Adjacent two-type segregation during gametogenesis in the mother can account for the unbalanced karyotypes of the siblings. From a tetravalent chromatid formed by normal chromosome 15, derivative chromosome 15, normal chromosome 22, and derivative chromosome 22, the daughter inherited chromosome 22 and derivative chromosome 22 and the son inherited chromosome 15 and derivat...
Source: American Journal of Medical Genetics Part A - March 13, 2009 Category: Genetics & Stem Cells Authors: Rika Kosaki, Ohsuke Migita, Takao Takahashi, Kenjiro Kosaki Source Type: journals

Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum DisordersEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: Our results show that abnormalities of the 15q11-q13 region are a significant cause of ASD, accounting for approximately 1% of cases. Maternal interstitial 15q11-q13 duplications, previously reported to be present in 1% of patients with ASD, were not detected in our sample. Although paternal duplications of chromosome 15 remain phenotypically silent in the majority of patients, they can give rise to developmental delay and ASD in some subjects, suggesting that paternally expressed genes in this region can contribute to ASD, albeit with reduced penetrance compared with maternal duplications. These findings indi...
Source: Biological Psychiatry - March 12, 2009 Category: Psychiatry Authors: Christel Depienne, Daniel Moreno-De-Luca, Delphine Heron, Delphine Bouteiller, Aurélie Gennetier, Richard Delorme, Pauline Chaste, Jean-Pierre Siffroi, Sandra Chantot-Bastaraud, Baya Benyahia, Oriane Trouillard, Gudrun Nygren, Svenny Kopp, Maria Johansso Tags: Archival Reports Source Type: journals

Novel mutations in the CDKL5 gene, predicted effects and associated phenotypesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract It has been found that CDKL5 gene mutations are responsible for early-onset epilepsy and drug resistance. We screened a population of 92 patients with classic/atypical Rett syndrome, 17 Angelman/Angelman-like patients and six idiopathic autistic patients for CDKL5 mutations and exon deletions and identified seven novel mutations: six in the Rett subset and one in an Angelman patient. This last, an insertion in exon 11, c.903_904 dupGA, p.Leu302Aspfx49X, is associated with a relatively mild clinical presentation as the patient is the only one capable of sitting and walking alone. Of the six mutations...
Source: Neurogenetics - February 25, 2009 Category: Genetics & Stem Cells Tags: neurogenetics Source Type: journals

Angelman Syndrome Foundation Request for Behavioral Research ProposalsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Application Submission Deadline: May 1, 2009 The Angelman Syndrome Foundation announces the availability of up to $200,000 to be awarded in support of research aimed at providing improved understanding, identification and effective therapeutic strategies for the behavioral difficulties known to occur in the Angelman syndrome. Proposals are encouraged to concentrate on practical treatment strategies that may be implemented in the home and school setting. Examples of priority areas for funding include strategies targeted toward improving: Nonverbal communication skills Self-injurious behaviors Hyperactivity and inattention ...
Source: ScanGrants feed - February 18, 2009 Category: Research Authors: Angelman Syndrome Foundation Source Type: funding

Novel UBE3A mutations causing Angelman syndrome: Different parental origin for single nucleotide changes and multiple nucleotide deletions or insertionsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Angelman syndrome (AS) is a genetic disorder caused by a deficiency of UBE3A imprinted gene expression from the maternal chromosome 15. In 10% of AS cases the genetic cause is a mutation affecting the maternal copy of the UBE3A gene. In two large Spanish series of clinically stringently selected and nonstringently selected patients, we have identified 11 pathological mutations - eight of them novel mutations - and 14 sequence changes considered polymorphic variants. Remarkably, single nucleotide substitutions are more likely to be inherited, while multiple nucleotide deletions or insertions are less frequently inherited, t...
Source: American Journal of Medical Genetics Part A - February 11, 2009 Category: Genetics & Stem Cells Authors: Cristina Camprubí, Miriam Guitart, Elisabeth Gabau, Maria Dolors Coll, Sergi Villatoro, Silvestre Oltra, Monica Roselló, Irene Ferrer, Sandra Monfort, Carmen Orellana, Francisco Martínez Source Type: journals

Imprinting disorders and assisted reproductive technologyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion(s): Because the absolute incidence of imprinting disorders is small ( (Source: Fertility and Sterility)
Source: Fertility and Sterility - February 1, 2009 Category: Reproduction Medicine Authors: Somjate Manipalviratn, Alan DeCherney, James Segars Tags: Modern trends Source Type: journals

Comparing Two Diagnostic Laboratory Tests for Several Microdeletions Causing Mental Retardation Syndromes: Multiplex Ligation-Dependent Amplification vs Fluorescent In Situ Hybridization.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
CONCLUSIONS: On the basis of these results, we conclude that MLPA is an accurate, reliable, and cost-effective alternative to FISH in the screening for microdeletion syndromes. PMID: 19262082 [PubMed - in process] (Source: The Korean Journal of Laboratory Medicine)
Source: The Korean Journal of Laboratory Medicine - February 1, 2009 Category: Laboratory Medicine Authors: Cho EH, Park BY, Cho JH, Kang YS Tags: Korean J Lab Med Source Type: journals

[Original articles] Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy numberEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: Our findings suggest that genetic copy number changes combined with additional genetic or environmental influences on epigenetic mechanisms impact outcome and clinical heterogeneity of 15q11–13 duplication syndromes. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - January 30, 2009 Category: Genetics & Stem Cells Authors: Hogart, A, Leung, K N, Wang, N J, Wu, D J, Driscoll, J, Vallero, R O, Schanen, N C, LaSalle, J M Tags: Original articles Source Type: journals

Identification of CpG methylation of the SNRPN gene by methylation-specific multiplex PCREmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In this article, we show that methylation-specific multiplex PCR (MS-multiplex PCR) is a sensitive and specific single assay for detecting CpG methylation status as well as copy number aberrations. We used MS-multiplex PCR to simultaneously amplify three sequences: the 3[prime] ends of the SNRPN gene (for unmethylated sequences), the KRITI gene (as internal control), and the promoter of the SNRPN gene containing CpG islands (for methylated sequences) after digestion with a methylation-sensitive restriction enzyme (HhaI). We established this duplex assay for the analysis of 38 individuals with Prader-Willi syndrome, 2 indiv...
Source: Electrophoresis - January 9, 2009 Category: Biochemistry Authors: Chia-Cheng Hung, Shin-Yu Lin, Shuan-Pei Lin, Dou-Ming Niu, Ni-Chung Lee, Wen-Fang Cheng, Chih-Ping Chen, Win-Li Lin, Chien-Nan Lee, Yi-Ning Su Source Type: journals

A multiplex molecular assay for the detection of uniparental disomy for human chromosome 15Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Uniparental disomy (UPD) describes the inheritance of both homologues of a pair of chromosomes from only one parent. During the last two decades, the clinical impact of UPD and associated imprinting disorders, such as Prader-Willi syndrome (PWS) and Angelman syndrome (AS) increasingly have come to our attention. About 25% of PWS and 3%-5% of AS are a consequence of UPD with the resulting phenotype generated from the parent of origin of the disomic pair of chromosomes 15. Chromosome 15 UPD testing is relevant in various prenatal diagnostic conditions including apparent confined placental mosaicism, homologous and nonhomolog...
Source: Electrophoresis - December 3, 2008 Category: Biochemistry Authors: Emiliano Giardina, Cristina Peconi, Raffaella Cascella, Cecilia Sinibaldi, Anna Maria Nardone, Giuseppe Novelli Source Type: journals

Angelman syndrome and anesthesia.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 19076580 [PubMed - in process] (Source: Paediatric Anaesthesia)
Source: Paediatric Anaesthesia - December 1, 2008 Category: Anesthesiology Authors: Patil JJ, Sindhakar S Tags: Paediatr Anaesth Source Type: journals

The Prevalence and Phenomenology of Repetitive Behavior in Genetic Syndromes.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We investigated the prevalence and phenomenology of repetitive behavior in genetic syndromes to detail profiles of behavior. The Repetitive Behaviour Questionnaire (RBQ) provides fine-grained identification of repetitive behaviors. The RBQ was employed to examine repetitive behavior in Angelman (N = 104), Cornelia de Lange (N = 101), Cri-du-Chat (N = 58), Fragile X (N = 191), Prader-Willi (N = 189), Lowe (N = 56) and Smith-Magenis (N = 42) syndromes and individuals with intellectual disability of heterogeneous aetiology (N = 56). Repetitive behavior was variable across syndromes. Fragile X syndrome scored highly on all...
Source: Journal of Autism and Developmental Disorders - November 27, 2008 Category: Psychiatry Authors: Moss J, Oliver C, Arron K, Burbidge C, Berg K Tags: J Autism Dev Disord Source Type: journals

The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The inv dup(15) or idic(15) syndrome displays distinctive clinical findings represented by early central hypotonia, developmental delay and intellectual disability, epilepsy, and autistic behaviour. Incidence at birth is estimated at 1 in 30,000 with a sex ratio of almost 1:1. Developmental delay and intellectual disability affect all individuals with inv dup(15) and are usually moderate to profound. Expressive language is absent or very poor and often echolalic. Comprehension is very limited and contextual. Intention to communicate is absent or very limited. The distinct behavioral disorder shown by children and adolescen...
Source: Orphanet Journal of Rare Diseases - November 19, 2008 Category: Internal Medicine Authors: Agatino Battaglia Source Type: journals

A review of known imprinting syndromes and their association with assisted reproduction technologiesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
An association between assisted reproduction technologies (ART) and abnormal genomic imprinting in humans has been recognized for several years; however, the magnitude of this risk and the spectrum of imprinting syndromes to which the risk applies remains unknown. Nine human imprinting syndromes have been identified but current evidence links ART with only three: Beckwith–Wiedemann syndrome, Angelman syndrome and the newly described maternal hypomethylation syndrome. There is currently a lack of evidence linking ART with the remaining six imprinting syndromes: Prader–Willi syndrome, Russell–Silver syndrom...
Source: Human Reproduction - November 17, 2008 Category: Reproduction Medicine Authors: Amor, D. J., Halliday, J. Tags: Reproductive Genetics Source Type: journals

[Causes and clinical implications of sperm DNA damages.]Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Numerous recent studies involve DNA damages associated with poor fertilization rates, early embryo development defect, and poor quality of conceptus following Assisted Reproductive Technologies (ART). The authors denounce a particularly high rate of miscarriages and childhood cancer or dominant genetic mutations such as achondroplasia, Apert syndrome or aberrant gene imprinting such as Angelman and Beckwith Wiedeman syndromes. Gametes DNA defects have numerous origins which are difficult to determine; they are known to involve hypomethylation, oxydative stress and environmental factors.(adducts formation). DNA defect i...
Source: Gynecologie, Obstetrique & Fertilite - October 27, 2008 Category: OBGYN Authors: Hazout A, Menezo Y, Madelenat P, Yazbeck C, Selva J, Cohen-Bacrie P Tags: Gynecol Obstet Fertil Source Type: journals

Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: Efficient identification of known microduplications and identification of a novel microduplication in ASMTEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: MLPA proves to be an efficient method to screen for chromosomal abnormalities. We identified duplications in 15q11-q13 and in 22q11, including new de novo small duplications, as likely contributing to ASD in the current sample by increasing liability and/or exacerbating symptoms. Our data indicate that duplications in the TM4SF2 are not associated with the phenotype given their presence in controls. The results in PAR1/PAR2 are the first large-scale studies of gene dosage in these regions, and the findings at the ASMT locus indicate that further studies of the duplication of the ASMT gene are needed in order t...
Source: BMC Medical Genomics - October 16, 2008 Category: Genetics & Stem Cells Authors: Guiqing Cai, Lisa Edelmann, Juliet E Goldsmith, Ninette Cohen, Alisa Nakamine, Jennifer G Reichert, Ellen J Hoffman, Danielle M Zurawiecki, Jeremy M Silverman, Eric Hollander, Latha Soorya, Evdokia Anagnostou, Catalina Betancur and Joseph D Buxbaum Source Type: journals