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Mutation spectrum of congenital heart disease in a consanguineous Turkish population.
- Source :
- Molecular Genetics & Genomic Medicine; Jun2022, Vol. 10 Issue 6, p1-12, 12p
- Publication Year :
- 2022
-
Abstract
- Backgrounds: While many studies agree that consanguinity increases the rate of congenital heart disease (CHD), few genome analyses have been conducted with consanguineous CHD cohorts. Methods: We recruited 73 CHD probands from consanguineous families in Turkey and used whole‐exome sequencing (WES) to identify genetic lesions in these patients. Results: On average, each patient had 6.95 rare damaging homozygous variants, 0.68 of which are loss‐of‐function (LoF) variants. Seven patients (9.6%) carried damaging homozygous variants in five causal CHD genes. Six of those patients exhibited laterality defects (six HTX and one D‐TGA). Three additional patients (4.1%) harbored other types of CHD‐associated genomic alterations, which overall explained 13.7% (10/73) of the cohort. The contribution from recessive variants in our cohort is higher than 1.8% reported from a cohort of 2871 CHD subjects where 5.6% of subjects met the criteria for consanguinity. Conclusions: Our WES screen of a Turkish consanguineous population with structural CHD revealed its unique genetic architecture. Six of seven damaging homozygous variants in CHD causal genes occur in the setting of laterality defects implies a strong contribution from consanguinity to these defects specifically. Our study thus provided valuable information about the genetic landscape of CHD in consanguineous families in Turkey. [ABSTRACT FROM AUTHOR]
- Subjects :
- CONSANGUINITY
CONGENITAL heart disease
GENETIC mutation
Subjects
Details
- Language :
- English
- ISSN :
- 23249269
- Volume :
- 10
- Issue :
- 6
- Database :
- Complementary Index
- Journal :
- Molecular Genetics & Genomic Medicine
- Publication Type :
- Academic Journal
- Accession number :
- 157358109
- Full Text :
- https://doi.org/10.1002/mgg3.1944