A novel nonsense mutation of ZEB2 gene in a Chinese patient with Mowat-Wilson syndrome.

ABSTRACT:

Background

Mowat-Wilson syndrome (MWS) is a rare genetic disorder characterized by intellectual disability, distinctive facial features, and multiple anomalies caused by haploinsufficiency of the ZEB2 gene. We investigated the genetic causes of MWS in a 14-year-old girl who had characteristic features of MWS.

Methods

Clinical data and peripheral blood DNA samples were collected from the proband. Following extraction of genomic DNA, whole-exome sequencing was conducted to detect genetic variants. Bioinformatics analysis was carried out to predict the function of the mutant gene.

Results

Mutation analysis of the proband identified a novel nonsense mutation (c.250G > T, p.E84*) within exon 3 of the ZEB2 gene. This novel alteration resulted in a termination codon at amino

SUBMITTER: Hu Y 

PROVIDER: S-EPMC7521239 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature