Burden of de novo mutations and inherited rare single nucleotide variants in children with sensory processing dysfunction.

ABSTRACT: BACKGROUND:In children with sensory processing dysfunction (SPD), who do not meet criteria for autism spectrum disorder (ASD) or intellectual disability, the contribution of de novo pathogenic mutation in neurodevelopmental genes is unknown and in need of investigation. We hypothesize that children with SPD may have pathogenic variants in genes that have been identified as causing other neurodevelopmental disorders including ASD. This genetic information may provide important insight into the etiology of sensory processing dysfunction and guide clinical evaluation and care. METHODS:Eleven community-recruited trios (children with isolated SPD and both biological parents) underwent WES to identify candidate de novo variants and inherited rare single nucleotide variants (rSNV) in genes previo

SUBMITTER: Marco EJ 

PROVIDER: S-EPMC5970458 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature