Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.

Détails

ID Serval
serval:BIB_706BED790797
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.
Périodique
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Auteur⸱e⸱s
Bremer A., Giacobini M., Eriksson M., Gustavsson P., Nordin V., Fernell E., Gillberg C., Nordgren A., Uppströmer A., Anderlid B.M., Nordenskjöld M., Schoumans J.
ISSN
1552-485X (Electronic)
ISSN-L
1552-4841
Statut éditorial
Publié
Date de publication
2011
Volume
156
Numéro
2
Pages
115-124
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
2 PMID : 21154433 et 21302340
Résumé
Autism spectrum disorders (ASDs) are a heterogeneous group of disorders with a complex genetic etiology. We used high-resolution whole genome array-based comparative genomic hybridization (array-CGH) to screen 223 ASD patients for gene dose alterations associated with susceptibility for autism. Clinically significant copy number variations (CNVs) were identified in 18 individuals (8%), of which 9 cases (4%) had de novo aberrations. In addition, 20 individuals (9%) were shown to have CNVs of unclear clinical relevance. Among these, 13 cases carried rare but inherited CNVs that may increase the risk for developing ASDs, while parental samples were unavailable in the remaining seven cases. Classification of all patients into different phenotypic and inheritance pattern groups indicated the presence of different CNV patterns in different patient groups. Clinically relevant CNVs were more common in syndromic cases compared to non-syndromic cases. Rare inherited CNVs were present in a higher proportion of ASD cases having first- or second-degree relatives with an ASD-related neuropsychiatric phenotype in comparison with cases without reported heredity (P = 0.0096). We conclude that rare CNVs, encompassing potential candidate regions for ASDs, increase the susceptibility for the development of ASDs and related neuropsychiatric disorders giving us further insight into the complex genetics underlying ASDs.
Pubmed
Web of science
Création de la notice
15/03/2011 15:42
Dernière modification de la notice
20/08/2019 15:29
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