Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV.

ABSTRACT: Recurrent deletions and duplications at chromosomal region 16p11.2 are a major genetic contributor to autism but also associate with a wider range of pediatric diagnoses, including intellectual disability, coordination disorder, and language disorder. In order to investigate the potential genetic basis for phenotype variability, we assessed the parent of origin of the 16p11.2 copy-number variant (CNV) and the presence of additional CNVs in 126 families for which detailed phenotype data were available. Among de novo cases, we found a strong maternal bias for the origin of deletions (59/66, 89.4% of cases, p = 2.38 × 10(-11)), the strongest such effect so far observed for a CNV associated with a microdeletion syndrome. In contrast to de novo events, we observed no transmission bias for inher

SUBMITTER: Duyzend MH 

PROVIDER: S-EPMC4716684 | biostudies-literature | 2016 Jan

REPOSITORIES: biostudies-literature