Document Detail

Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder.
MedLine Citation:
PMID:  19246517     Owner:  NLM     Status:  MEDLINE    
Autism spectrum disorders (ASDs) constitute a group of severe neurodevelopmental conditions with complex multifactorial etiology. In order to explore the hypothesis that submicroscopic genomic rearrangements underlie some ASD cases, we have analyzed 96 Spanish patients with idiopathic ASD after extensive clinical and laboratory screening, by array comparative genomic hybridization (aCGH) using a homemade bacterial artificial chromosome (BAC) array. Only 13 of the 238 detected copy number alterations, ranging in size from 89 kb to 2.4 Mb, were present specifically in the autistic population (12 out of 96 individuals, 12.5%). Following validation by additional molecular techniques, we have characterized these novel candidate regions containing 24 different genes including alterations in two previously reported regions of chromosome 7 associated with the ASD phenotype. Some of the genes located in ASD-specific copy number variants act in common pathways, most notably the phosphatidylinositol signaling and the glutamatergic synapse, both known to be affected in several genetic syndromes related with autism and previously associated with ASD. Our work supports the idea that the functional alteration of genes in related neuronal networks is involved in the etiology of the ASD phenotype and confirms a significant diagnostic yield for aCGH, which should probably be included in the diagnostic workup of idiopathic ASD.
Ivon Cuscó; Andrés Medrano; Blanca Gener; Mireia Vilardell; Fátima Gallastegui; Olaya Villa; Eva González; Benjamín Rodríguez-Santiago; Elisabet Vilella; Miguel Del Campo; Luis A Pérez-Jurado
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2009-02-26
Journal Detail:
Title:  Human molecular genetics     Volume:  18     ISSN:  1460-2083     ISO Abbreviation:  Hum. Mol. Genet.     Publication Date:  2009 May 
Date Detail:
Created Date:  2009-04-23     Completed Date:  2009-07-14     Revised Date:  2013-06-02    
Medline Journal Info:
Nlm Unique ID:  9208958     Medline TA:  Hum Mol Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  1795-804     Citation Subset:  IM    
Unitat de Genètica, Universitat Pompeu Fabra, Barcelona, Spain.
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MeSH Terms
Autistic Disorder / etiology,  genetics*,  metabolism*
Comparative Genomic Hybridization
Gene Dosage*
Phosphatidylinositols / metabolism*
Signal Transduction*
Synapses / genetics,  metabolism*
Reg. No./Substance:

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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