Related Experiment Video

Updated: Jun 20, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

[Association between GATA-4 mutations and congenital cardiac septal defects in Han Chinese patients]

Ming-wu Chen1, Yu-sheng Pang, Ying Guo

  • 1Department of Pediatrics, the First Affiliated Hospital, Guangxi Medical University, Nanning, China.

Zhonghua Xin Xue Guan Bing Za Zhi
|September 29, 2009
PubMed

Insights

Genetic mutations in the GATA-4 gene are linked to congenital cardiac septal defects in Han Chinese individuals. Two novel mutations were identified in patients, suggesting a potential role for GATA-4 in heart development.

Area of Science:

  • Genetics
  • Cardiology
  • Molecular Biology

Background:

  • Congenital cardiac septal defects are common heart abnormalities.
  • The GATA-4 gene plays a crucial role in cardiac development.

Purpose of the Study:

  • To investigate the association between GATA-4 gene mutations and congenital cardiac septal defects.
  • To identify novel mutations in the GATA-4 gene in Han Chinese patients.

Main Methods:

  • Studied 50 Han Chinese patients with septal defects and 100 controls.
  • Amplified GATA-4 exons and intron-exon boundaries using polymerase chain reaction.
  • Sequenced amplified products to identify mutations.

Main Results:

  • Discovered two novel heterozygous GATA-4 mutations: His28Tyr (exon 2) and His436Tyr (exon 7).
  • These mutations were absent in the control group and not previously reported.
  • Mutations were found in patients with congenital cardiac septal defects.

Conclusions:

  • GATA-4 gene mutations are potentially associated with congenital cardiac septal defects.
  • Findings suggest GATA-4 mutations may contribute to the pathogenesis of these defects in Han Chinese patients.
Abstract

More Related Videos

Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound (30/45MHZ) System07:34

Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound (30/45MHZ) System

Published on: May 5, 2018

Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods08:28

Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods

Published on: March 10, 2020

Related Concept Videos

Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...