Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders.

ABSTRACT: BACKGROUND:Ultra-rare genetic variants, including non-recurrent copy number variations (CNVs) affecting important dosage-sensitive genes, are important contributors to the etiology of neurodevelopmental disorders (NDDs). Pairing family-based whole-genome sequencing (WGS) with detailed phenotype data can enable novel gene associations in NDDs. METHODS:We performed WGS of six members from a three-generation family, where three individuals each had a spectrum of features suggestive of a NDD. CNVs and sequence-level variants were identified and further investigated in disease and control databases. RESULTS:We identified a novel 252-kb deletion at 15q21 that overlaps the synaptic gene DMXL2 and the gene GLDN. The microdeletion segregated in NDD-affected individuals. Additional rare inherited an

SUBMITTER: Costain G 

PROVIDER: S-EPMC6366120 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature