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J Pediatr Genet 2021; 10(02): 092-097
DOI: 10.1055/s-0040-1714691
Original Article

GATA4 Deletions Associated with Congenital Heart Diseases in South Brazil

Maiara A. Floriani
1   Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil
,
Andressa B. Glaeser
1   Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil
,
Luiza E. Dorfman
1   Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil
,
Grasiela Agnes
2   Molecular Biology Laboratory, Universidade Federal de Ciências da Saúde de Porto Alegre, Rio Grande do Sul, Brazil
,
Rafael F. M. Rosa
1   Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil
3   Department of Internal Medicine, Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre and Irmandade Santa Casa de Misericórdia de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil
,
Paulo R. G. Zen
1   Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil
3   Department of Internal Medicine, Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre and Irmandade Santa Casa de Misericórdia de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil
› Author Affiliations Funding This study was supported by FAPERGS (17/2551–0001063–9), Research Support Foundation of the State of Rio Grande do Sul; PROEXT, Support Program for University Extension of MEC - Ministry of Education and Culture; and CAPES, Coordination of Superior Level Staff Improvement (001). Research productivity fellowship Brazil (CNPq) (301834/2016–4).
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Abstract

The normal development of the heart comprises a highly regulated machinery of genetic events, involving transcriptional factors. Congenital heart disease (CHD), have been associated with chromosomal abnormalities and copy number variants (CNVs). Our goal was to investigate through the multiplex ligation-dependent probe amplification (MLPA) technique, the presence of CNVs in reference genes for normal cardiac development in patients with CHD. GATA4, NKX2–5, TBX5, BMP4, and CRELD1 genes and 22q11.2 chromosome region were analyzed in 207 children with CHD admitted for the first time in a cardiac intensive care unit from a pediatric hospital. CNVs were detected in seven patients (3.4%): four had a 22q11.2 deletion (22q11DS) (1.9%), two had a GATA4 deletion (1%) and one had a 22q11.2 duplication (0.5%). No patients with CNVs in the NKX2–5, TBX5, BMP4, and CRELD1 genes were identified. GATA4 deletions appear to be present in a significant number of CHD patients, especially those with septal defects, persistent left superior vena cava, pulmonary artery abnormalities, and extracardiac findings. GATA4 screening seems to be more effective when directed to these CHDs. The investigation of CNVs in GATA4 and 22q11 chromosome region in patients with CHD is important to anticipating the diagnosis, and to contributing to family planning.

Keywords

heart defects - congenital - GATA4 transcription factor - 22q11 deletion syndrome

Authors' Contributions

M.A.F., A.B.G., L.E.D., G.A., and P.R.G.Z. performed genetic testing and prepared the manuscript; M.A.F., G.A., and P.R.G.Z. supervised genetic testing; M.A.F., A.B.G., and R.F.M.R. reviewed clinical data and edited the manuscript; M.A.F., A.B.G., L.E.D., reviewed the medical records; M.A.F., R.F.M.R., and P.R.G.Z. designed the study, supervised genetic tests, wrote and edited the manuscript.




Publication History

Received: 24 April 2020

Accepted: 10 June 2020

Article published online:
29 July 2020

© 2020. Thieme. All rights reserved.

Georg Thieme Verlag KG
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