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

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

IntroductionMediator 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, inclu...

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Bibliographic Details
Main Authors: Linbing Zou, Ruikang Qiu, Zhijun Dai, Yulei Li, Yunjiao Liao, Yan Zhou
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-08-01
Series:Frontiers in Genetics
Subjects:
MED25
whole exome sequencing (WES)
compound heterozygous mutation
c.1965+1dup
c.670C>G (p.R224G)
gene splicing assay
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1654336/full
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