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Pathophysiological Significance of Variants of the HAND1 Gene Promoter in Congenital Atrial Septal Defects: A Study in 632 Chinese Subjects.

Human mutation - 1 Jan 2026

Qi Jia-Le, Chen Huan-Xin, Hou Hai-Tao, Yang Qin, He Guo-Wei

Abstract excerpt

Background: Atrial septal defect (ASD) is a common congenital heart disease (CHD) and genetic variation in the HAND1 gene is associated with cardiac development. The variants in the promoter region of the HAND1 gene are unknown. Methods: We performed Sanger sequencing of DNA from 632 subjects (320 ASD patients and 312 healthy controls). The identified variants were also subjected to further cellular functional...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42079346
DOI: 10.1155/humu/8840490
PMCID: PMC13131053

Genes

HAND1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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