Investigation of Copy Number Variation in South African Patients With Congenital Heart Defects.
Africa, southern
DNA copy number variations
chromosomal abberations
genetics
heart defects, congenital
Journal
Circulation. Genomic and precision medicine
ISSN: 2574-8300
Titre abrégé: Circ Genom Precis Med
Pays: United States
ID NLM: 101714113
Informations de publication
Date de publication:
12 2022
12 2022
Historique:
pubmed:
8
10
2022
medline:
23
12
2022
entrez:
7
10
2022
Statut:
ppublish
Résumé
Congenital heart disease (CHD) is a leading non-infectious cause of pediatric morbidity and mortality worldwide. Although the etiology of CHD is poorly understood, genetic factors including copy number variants (CNVs) contribute to the risk of CHD in individuals of European ancestry. The presence of rare CNVs in African CHD populations is unknown. This study aimed to identify pathogenic and likely pathogenic CNVs in South African patients with CHD. Genotyping was performed on 90 patients with nonsyndromic CHD using the Affymetrix CytoScan HD platform. These data were used to identify large, rare CNVs in known CHD-associated genes and candidate genes. We identified eight CNVs overlapping known CHD-associated genes ( In this study, we show that chromosomal microarray is an effective technique for identifying CNVs in African patients diagnosed with CHD and have demonstrated results similar to previous CHD genetic studies in Europeans. Novel potential CHD genes were also identified, indicating the value of genetic studies of CHD in ancestrally diverse populations.
Sections du résumé
BACKGROUND
Congenital heart disease (CHD) is a leading non-infectious cause of pediatric morbidity and mortality worldwide. Although the etiology of CHD is poorly understood, genetic factors including copy number variants (CNVs) contribute to the risk of CHD in individuals of European ancestry. The presence of rare CNVs in African CHD populations is unknown. This study aimed to identify pathogenic and likely pathogenic CNVs in South African patients with CHD.
METHODS
Genotyping was performed on 90 patients with nonsyndromic CHD using the Affymetrix CytoScan HD platform. These data were used to identify large, rare CNVs in known CHD-associated genes and candidate genes.
RESULTS
We identified eight CNVs overlapping known CHD-associated genes (
CONCLUSIONS
In this study, we show that chromosomal microarray is an effective technique for identifying CNVs in African patients diagnosed with CHD and have demonstrated results similar to previous CHD genetic studies in Europeans. Novel potential CHD genes were also identified, indicating the value of genetic studies of CHD in ancestrally diverse populations.
Identifiants
pubmed: 36205932
doi: 10.1161/CIRCGEN.121.003510
pmc: PMC9770125
doi:
Substances chimiques
MicroRNAs
0
RNA-Binding Proteins
0
FSTL1 protein, human
158709-61-6
Follistatin-Related Proteins
0
KDM2A protein, human
EC 1.14.11.27
F-Box Proteins
0
Jumonji Domain-Containing Histone Demethylases
EC 1.14.11.-
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e003510Subventions
Organisme : Medical Research Council
ID : MR/S005242/1
Pays : United Kingdom
Organisme : British Heart Foundation
ID : RG/15/12/31616
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/P025463/1
Pays : United Kingdom
Organisme : British Heart Foundation
ID : RG15/12/31616
Pays : United Kingdom
Organisme : British Heart Foundation
ID : RG/F/21/110050
Pays : United Kingdom
Organisme : British Heart Foundation
ID : CH/13/2/30154
Pays : United Kingdom
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