Unraveling the pathogenicity role of the novel compound heterozygous mutations of MED25 gene in a Chinese patient with BVSYS.

ABSTRACT:

Introduction

Mediator of RNA polymerase II transcription subunit 25 (MED25), a crucial component of the transcriptional coactivator complex, plays a significant role in the transcription of most RNA polymerase II-dependent genes. Mutations in MED25 have been linked to various genetic syndromes, including Basel-Vanagaite-Smirin-Yosef Syndrome (BVSYS) and Intellectual Disability (ID). This study elucidated the molecular mechanism through which compound heterozygous mutations in the MED25 gene impaired pre-mRNA splicing, ultimately causing BVSYS.

Methods

Whole exome sequencing (WES) was performed to identify genetic variants, followed by Sanger sequencing for validation. Clinical data were correlated with established MED25-related syndrome phenotypes

SUBMITTER: Zou L 

PROVIDER: S-EPMC12405326 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature