Copy number variation characteristics in subpopulations of patients with autism spectrum disorders
| Autor: | Magnus Nordenskjöld, Christopher Gillberg, Åsa Uppströmer, Peter Gustavsson, Elisabeth Fernell, Jacqueline Schoumans, Mats Anders Eriksson, MaiBritt Giacobini, Ann Nordgren, Britt-Marie Anderlid, Anna Bremer, Viviann Nordin |
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| Rok vydání: | 2010 |
| Předmět: |
Male
DNA Copy Number Variations Inheritance Patterns Biology medicine.disease_cause behavioral disciplines and activities Cellular and Molecular Neuroscience mental disorders Heredity Pervasive developmental disorder medicine Humans Clinical significance Copy-number variation Child Genetics (clinical) Genetics Comparative Genomic Hybridization medicine.disease Phenotype Developmental disorder Psychiatry and Mental health Child Development Disorders Pervasive Mutation Autism Female Comparative genomic hybridization |
| Zdroj: | American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 156:115-124 |
| ISSN: | 1552-4841 |
| DOI: | 10.1002/ajmg.b.31142 |
| Popis: | 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. © 2010 Wiley-Liss, Inc. |
| Databáze: | OpenAIRE |
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