Association of rare missense variants in the second intracellular loop of Na_V1.7 sodium channels with familial autism.

ABSTRACT: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder often accompanied by intellectual disability, language impairment and medical co-morbidities. The heritability of autism is high and multiple genes have been implicated as causal. However, most of these genes have been identified in de novo cases. To further the understanding of familial autism, we performed whole-exome sequencing on five families in which second- and third-degree relatives were affected. By focusing on novel and protein-altering variants, we identified a small set of candidate genes. Among these, a novel private missense C1143F variant in the second intracellular loop of the voltage-gated sodium channel Na_V1.7, encoded by the SCN9A gene, was identified in one family. Through electrophysiolo

SUBMITTER: Rubinstein M 

PROVIDER: S-EPMC5468514 | biostudies-literature | 2018 Feb

REPOSITORIES: biostudies-literature