Journal article

Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene.

Maricela Alarcón, Brett S Abrahams, Jennifer L Stone, Jacqueline A Duvall, Julia V Perederiy, Jamee M Bomar, Jonathan Sebat, Michael Wigler, Christa L Martin, David H Ledbetter, Stanley F Nelson, Rita M Cantor, Daniel H Geschwind

Am J Hum Genet | Published : 2008


Autism is a genetically complex neurodevelopmental syndrome in which language deficits are a core feature. We describe results from two complimentary approaches used to identify risk variants on chromosome 7 that likely contribute to the etiology of autism. A two-stage association study tested 2758 SNPs across a 10 Mb 7q35 language-related autism QTL in AGRE (Autism Genetic Resource Exchange) trios and found significant association with Contactin Associated Protein-Like 2 (CNTNAP2), a strong a priori candidate. Male-only containing families were identified as primarily responsible for this association signal, consistent with the strong male affection bias in ASD and other language-based diso..

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