Novel variants in the CLCN4 gene associated with syndromic X-linked intellectual disability.

ABSTRACT:

Objective

The dysfunction of the CLCN4 gene can lead to X-linked intellectual disability and Raynaud-Claes syndrome (MRXSRC), characterized by severe cognitive impairment and mental disorders. This study aimed to investigate the genetic defects and clinical features of Chinese children with CLCN4 variants and explore the effect of mutant ClC-4 on the protein expression level and subcellular localization through in vitro experiments.

Methods

A total of 401 children with intellectual disabilities were screened for genetic variability using whole-exome sequencing (WES). Clinical data, including age, sex, perinatal conditions, and environmental exposure, were collected. Cognitive, verbal, motor, and social behavioral abilities were evaluated. Candidate varia

SUBMITTER: Li S 

PROVIDER: S-EPMC10542403 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature