Genomics and Epigenomics of Congenital Heart Defects: Expert Review and Lessons Learned in Africa

Omics : a Journal of Integrative Biology
Nicholas Ekow ThomfordCollet Dandara

Abstract

Congenital heart defects (CHD) are structural malformations found at birth with a prevalence of 1%. The clinical trajectory of CHD is highly variable and thus in need of robust diagnostics and therapeutics. Major surgical interventions are often required for most CHDs. In Africa, despite advances in life sciences infrastructure and improving education of medical scholars, the limited clinical data suggest that CHD detection and correction are still not at par with the rest of the world. But the toll and genetics of CHDs in Africa has seldom been systematically investigated. We present an expert review on CHD with lessons learned on Africa. We found variable CHD phenotype prevalence in Africa across countries and populations. There are important gaps and paucity in genomic studies of CHD in African populations. Among the available genomic studies, the key findings in Africa were variants in GATA4 (P193H), MTHFR 677TT, and MTHFR 1298CC that were associated with atrial septal defect, ventricular septal defect (VSD), Tetralogy of Fallot (TOF), and patent ductus arteriosus phenotypes and 22q.11 deletion, which is associated with TOF. There were no data on epigenomic association of CHD in Africa, however, other studies have shown an ...Continue Reading

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Citations

Feb 7, 2020·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Meghan Zimmerman, Craig Sable
May 21, 2020·Italian Journal of Pediatrics·Cheng XuXuming Mo
Dec 14, 2019·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Teodoro JervesPaul Kruszka
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May 6, 2021·American Journal of Medical Genetics. Part a·Arianna RicciardelloAntonio M Persico
Dec 24, 2020·Cell Biochemistry and Function·Liwei MaoJun Zou

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Methods Mentioned

BETA
biopsies
exome sequencing
chips

Software Mentioned

STRING
Google Scholar
RNASeq
Ampliseq
CoNVex
geneMANIA cytoscape

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