Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders.

ABSTRACT:

Background

Validating the potential pathogenicity of copy number variants (CNVs) identified in genome-wide studies of autism spectrum disorders (ASD) requires detailed assessment of case/control frequencies, inheritance patterns, clinical correlations, and functional impact. Here, we characterize a small recurrent duplication in the annexin A1 (ANXA1) gene, identified by the Autism Genome Project (AGP) study.

Methods

From the AGP CNV genomic screen in 2,147 ASD individuals, we selected for characterization an ANXA1 gene duplication that was absent in 4,964 population-based controls. We further screened the duplication in a follow-up sample including 1,496 patients and 410 controls, and evaluated clinical correlations and family segregation. Sequencing of exonic/downstream AN

SUBMITTER: Correia CT 

PROVIDER: S-EPMC4098665 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature