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A Novel Splicing Mutation c.335-1 G > A in the Cardiac Transcription Factor NKX2-5 Leads to Familial Atrial Septal Defect Through miR-19 and PYK2.

Stem cell reviews and reports - 1 Dec 2022

Jia Li, Limeng Dai, Xiaoyin Tan, Junwen Wang, Xintong Zhu, Gang Xiong, Yun Bai, Hong Guo

Abstract excerpt

Mutations of NKX2-5 largely contribute to congenital heart diseases (CHDs), especially atrial septal defect (ASD). We identified a novel heterozygous splicing mutation c.335-1G > A in NKX2-5 gene in an ASD family via whole exome sequencing (WES) and linkage analysis. Utilizing the human induced pluripotent stem cell (hiPSC)-derived cardiomyocytes (hiPSC-CMs) as a disease model, we showed that...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 35778654
DOI: 10.1007/s12015-022-10400-5

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