A novel KDM5C mutation associated with intellectual disability: molecular mechanisms and clinical implications.

ABSTRACT:

Background

Among the disease-causing genes associated with X-linked intellectual disability (XLID), KDM5C is one of the most frequently mutated ones. KDM5C is a widely expressed gene that is most highly expressed in the brain. KDM5C modulates the transcriptional activity of genes through demethylation of H3K4, thereby regulating neural development and normal function. We identified a gene from a Chinese family and found that a nonsense mutation of KDM5C was co-segregated with the intellectual disability (ID).

Methods

The candidate mutant genes of patients with ID phenotype were screened by Whole Exome Sequencing (WES), and DNA Sanger sequencing was performed for genetic analysis. Pathogenicity prediction tools were used to evaluate the pathogenicity of new mutations. The fus

SUBMITTER: Meng Y 

PROVIDER: S-EPMC11827480 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature