Mutation spectrum of congenital heart disease in a consanguineous Turkish population.

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.

SUBMITTER: Dong W 

PROVIDER: S-EPMC9184665 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature