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Human Molecular Genetics Advance Access originally published online on February 26, 2009
Human Molecular Genetics 2009 18(10):1795-1804; doi:10.1093/hmg/ddp092
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© 2009. The Author(s)
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.0/uk/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder

Ivon Cuscó1,2, Andrés Medrano1,2, Blanca Gener1,3, Mireia Vilardell1, Fátima Gallastegui1,2, Olaya Villa1,2, Eva González4, Benjamín Rodríguez-Santiago1,2, Elisabet Vilella5, Miguel Del Campo1,2,6 and Luis A. Pérez-Jurado1,2,6,*

1 Unitat de Genètica, Universitat Pompeu Fabra, Barcelona 08003, Spain 2 CIBER de enfermedades raras (CIBERER), Barcelona 08003, Spain 3 Unidad de Genética Clínica, Hospital de Cruces, Barakaldo, Bizkaia, Spain 4 Centre de Regulació Genòmica (CRG), Barcelona 08003, Spain 5 Hospital Psiquiatric Universitari Institut Pere Mata, Reus, Spain 6 Programa de Medicina Molecular i Genètica, Hospital Vall d’Hebron, Barcelona 08039, Spain

* To whom correspondence should be addressed at: Unitat de Genètica, Universitat Pompeu Fabra, Parc de Recerca Biomèdica de Barcelona, Dr Aiguader 88, 08003 Barcelona, Spain. Tel: +34 933160856; Fax: +34 933160901; Email: luis.perez{at}upf.edu

Received December 29, 2008; Revised February 17, 2009; Accepted February 23, 2009

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.


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