Missense mutations in the CITED2 gene may contribute to congenital heart disease.

ABSTRACT:

Background

Congenital heart disease (CHD) is a lifelong abnormality present from birth. Multiple studies have shown that mutations in genes involved in heart development could cause congenital heart disease. The CITED2 gene works as a transcription factor in the hypoxic pathway for the development of the heart. Therefore, five CHD types, ventricular septal defect, atrial septal defect, atrioventricular septal defect, tetralogy of fallot, and patent ductus arteriosus, were evaluated by conducting a targeted single nucleotide polymorphism (SNP) analysis of the CITED2 gene variant rs375393125 (T > C). This study aimed to identify the association of CITED2 gene mutations in CHD patients.

Methods

Three hundred fifty samples, 250 from patients and 100 from controls, were collected

SUBMITTER: Yaqoob H 

PROVIDER: S-EPMC11429617 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature