Family-based exome sequencing and case-control analysis implicate CEP41 as an ASD gene.

ABSTRACT: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder with a strong genetic component. Although next-generation sequencing (NGS) technologies have been successfully applied to gene identification in de novo ASD, the genetic architecture of familial ASD remains largely unexplored. Our approach, which leverages the high specificity and sensitivity of NGS technology, has focused on rare variants in familial autism. We used NGS exome sequencing in 26 families with distantly related affected individuals to identify genes with private gene disrupting and missense variants of interest (VOI). We found that the genes carrying VOIs were enriched for biological processes related to cell projection organization and neuron development, which is consistent with the neurodevelopmental h

SUBMITTER: Patowary A 

PROVIDER: S-EPMC6341097 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature