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

• Author(s): Correia, C.T. ; Conceição, I.C. ; Oliveira, B. ; Coelho, J. ; Sousa, I. ; Sequeira, A.F. ; Almeida, J. ; Café, C. ; Duque, F ; Mouga, S. ; Roberts, W. ; Gao, K. ; Lowe, J.K. ; Thiruvahindrapuram, B. ; Walker, S. ; Marshall, C.R. ; Pinto, D. ; Nurnberger, J.I. ; Scherer, S.W. ; Geschwind, D.H. ; Oliveira, G. ; Vicente, A.M.
• Date: 2014
• Persistent ID: http://hdl.handle.net/10400.18/2272
• Origin: Repositório Científico do Instituto Nacional de Saúde
• Subject(s): ANXA1; Autism; Brain Homeostasis; Copy Number Variants; Duplication; Glucocorticoids; Perturbações do Desenvolvimento Infantil e Saúde Mental
• Document Type: Article
• Language: English

Description

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.