Novel PAK3 gene missense variant associated with two Chinese siblings with intellectual disability: a case report.

ABSTRACT:

Background

Intellectual disability (ID) constitutes the most common group of neurodevelopmental disorders. Exome sequencing has enabled the discovery of genetic mutations responsible for a wide range of ID disorders.

Case presentation

In this study, we reported on two male siblings, aged 4 and 2 years, with motor and mental developmental delays and mild dysmorphic facial features. To identify the genetic causes of these symptoms, we employed trio-whole exome sequencing for the proband. We found a novel hemizygous missense variant in the PAK3 gene (c.1112G > A, p.Cys371Tyr), which encodes the p21-activated kinase 3, in the proband, which inherited from mother. The younger brother also has the hemizygous variant, which was confirmed by Sanger sequencing. The variant is located

SUBMITTER: Qian Y 

PROVIDER: S-EPMC7017536 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature