High prevalence of ALPK3 premature terminating variants in Korean hypertrophic cardiomyopathy patients.

ABSTRACT:

Background

The alpha-protein kinase 3 (ALPK3) gene (OMIM: 617608) is associated with autosomal recessive familial hypertrophic cardiomyopathy-27 (CMH27, OMIM: 618052). Recently, several studies have shown that monoallelic premature terminating variants (PTVs) in ALPK3 are associated with adult-onset autosomal dominant hypertrophic cardiomyopathy (HCMP). However, these studies were performed on patient cohorts mainly from European Caucasian backgrounds.

Methods

To determine if this finding is replicated in the Korean HCMP cohort, we evaluated 2,366 Korean patients with non-syndromic HCMP using exome sequencing and compared the cohort dataset with three independent population databases.

Results

We observed that monoallelic PTVs in ALPK3 were also si

SUBMITTER: Ryu SW 

PROVIDER: S-EPMC11259124 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature