Rare structural variants in the DOCK8 gene identified in a cohort of 439 patients with neurodevelopmental disorders.

ABSTRACT: Detection of copy number variations (CNVs) is a first-tier clinical diagnostic test for children with neurodevelopmental disorders (NDD), which reveals the genetic cause of the disorder in more than 20%. These are mostly known microdeletion/microduplication syndromes, but variants of unknown clinical significance (VOUS) and ambiguous CNVs can also be detected. An example of the last two are abnormalities in the DOCK8 gene. Conflicting interpretations of CNVs affecting DOCK8 can be found in the literature. Deletions were predicted to have a impact in carriers with variable clinical manifestations, where duplications have been proposed as benign variants. In our study, CNV screening was performed in a cohort involving 439 probands with suspected NDD. We identified known microdeletion/microdu

SUBMITTER: Krgovic D 

PROVIDER: S-EPMC6013431 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature