Abstract
GATA4mutations are found in patients with different isolated congenital heart defects (CHDs), mostly cardiac septal defects and tetralogy of Fallot. In addition,GATA4is supposed to be the responsible gene for the CHDs in the chromosomal 8p23 deletion syndrome, which is recognized as a malformation syndrome with clinical symptoms of facial anomalies, microcephaly, mental retardation, and congenital heart defects. Thus far, no study has been carried out to investigate the role ofGATA4copy number variations (CNVs) in non-syndromic CHDs. To explore the possible occurrence ofGATA4gene CNVs in isolated CHDs, we analyzed by multiplex ligation-dependent probe amplification (MLPA) a cohort of 161 non-syndromic patients with cardiac anomalies previously associated withGATA4gene mutations. The patients were mutation-negative forGATA4,NKX2.5, andFOG2genes after screening with denaturing high performance liquid chromatography. MLPA analysis revealed that normalized MLPA signals were all found within the normal range values for all exons in all patients, excluding a major contribution ofGATA4gene CNVs in CHD pathogenesis.
Highlights
Congenital heart defects (CHDs) are the most common type of birth anomalies affecting nearly 1% of all live births [1]
Mutations in the GATA4 gene have been associated with other CHD phenotypes, such as atrioventricular canal defect (AVCD), tetralogy of Fallot (ToF), patent ductus ateriosus, pulmonary stenosis, and hypoplastic right ventricle [4,8,9,10,11,12,13]
Somatic GATA4 mutations have been found in formalin-fixed heart tissues from CHD patients with septal defects and AVCD [14]
Summary
Congenital heart defects (CHDs) are the most common type of birth anomalies affecting nearly 1% of all live births [1]. Most of GATA4 mutations have been found in patients with familial cardiac septal defects [4,5,6,7,8,9]. Mutations in the GATA4 gene have been associated with other CHD phenotypes, such as atrioventricular canal defect (AVCD), tetralogy of Fallot (ToF), patent ductus ateriosus, pulmonary stenosis, and hypoplastic right ventricle [4,8,9,10,11,12,13].
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