Case Report: The nonsense variation of the cardiac transcription factor NKX2-5 has been identified in a Chinese family with nonsyndromic congenital heart disease

Case Report: The nonsense variation of the cardiac transcription factor NKX2-5 has been identified in a Chinese family with nonsyndromic congenital heart disease

BackgroundNK2 HOMEOBOX 5(OMIM: 600584, NKX2-5), a pivotal cardiac regulatory transcription factor, represents the initial identified genetic etiology underlying congenital heart diseases (CHDs). As a member of the NK homeobox gene family, NKX2-5 functions as an essential DNA-binding transcriptional...

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Bibliographic Details
Main Authors: Haixia Zhang, Jing Chen, He Wang, Qinqin Xiang, Shanling Liu
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-07-01
Series:Frontiers in Genetics
Subjects:
nkx2-5
nonsense variant
trio-whole-exome sequencing
nonsyndromic congenital heart disease
case report
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1498144/full
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