Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication.

ABSTRACT:

Background

The recurrent microduplication of 16p11.2 (dup16p11.2) is associated with a broad spectrum of neurodevelopmental disorders (NDD) confounded by incomplete penetrance and variable expressivity. This inter- and intra-familial clinical variability highlights the importance of personalized genetic counselling in individuals at-risk.

Case presentation

In this study, we performed whole exome sequencing (WES) to look for other genomic alterations that could explain the clinical variability in a family with a boy presenting with NDD who inherited the dup16p11.2 from his apparently healthy mother. We identified novel splicing variants of VPS13B (8q22.2) in the proband with compound heterozygous inheritance. Two VPS13B mutations abolished the canonical splice sites resulting

SUBMITTER: Dastan J 

PROVIDER: S-EPMC5105257 | biostudies-literature | 2016 Nov

REPOSITORIES: biostudies-literature