Exome Sequencing and Congenital Heart Disease in Sub-Saharan Africa.

ABSTRACT:

Background

Congenital heart disease (CHD) is the most common birth defect and affects roughly 1% of the global population. There have been many large CHD sequencing projects in developing countries but none in sub-Saharan Africa. In this exome sequencing study, we recruited families from Lagos, Nigeria, affected by structural heart disease.

Methods

Ninety-eight participants with CHD and an average age of 3.6 years were recruited from Lagos, Nigeria. Exome sequencing was performed on probands and parents when available. For genes of high interest, we conducted functional studies in Drosophila using a cardiac-specific RNA interference-based gene silencing system.

Results

The 3 most common CHDs were tetralogy of Fallot (20%), isolated ventricular septal defect (14

SUBMITTER: Ekure EN 

PROVIDER: S-EPMC7887052 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature