2 documents found, page 1 of 1
Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders
Correia, CT; Conceição, IC; Oliveira, B; Coelho, J; Sousa, I; Sequeira, AF; Almeida, J; Café, C; Duque, F; Mouga, S; Roberts, W; Gao, K; Lowe, JKBACKGROUND: 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. ...
CNVs leading to fusion transcripts in individuals with autism spectrum disorder
Holt, R; Sykes, NH; Conceição, IC; Cazier, JB; Anney, RJ; Oliveira, G; Gallagher, L; Monaco, AP; Pagnamenta, ATThere is strong evidence that rare copy number variants (CNVs) have a role in susceptibility to autism spectrum disorders (ASDs). Much research has focused on how CNVs mediate a phenotypic effect by altering gene expression levels. We investigated an alternative mechanism whereby CNVs combine the 5' and 3' ends of two genes, creating a 'fusion gene'. Any resulting mRNA with an open reading frame could potential...