biostudies-literatureUnknown11Ryu SW<h4>Background</h4>The alpha-protein kinase 3 (<i>ALPK3</i>) 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 <i>ALPK3</i> are associated with adult-onset autosomal dominant hypertrophic cardiomyopathy (HCMP). However, these studies were performed on patient cohorts mainly from European Caucasian backgrounds.<h4>Methods</h4>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.<h4>Results</h4>We observed that monoallelic PTVs in <i>ALPK3</i> were also siFrontiers in cardiovascular medicine1424551https://www.ebi.ac.uk/biostudies/studies/S-EPMC11259124biostudies-literatureHigh prevalence of <i>ALPK3</i> premature terminating variants in Korean hypertrophic cardiomyopathy patients.PMC11259124Seo GHHong GRCho JYKim HLee SHLee HSon JWJeong WCJang JYHan BLee SYRyu SWKim JHBae DHKim KHCho JSfalseHigh prevalence of <i>ALPK3</i> premature terminating variants in Korean hypertrophic cardiomyopathy patients.<h4>Background</h4>The alpha-protein kinase 3 (<i>ALPK3</i>) 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 <i>ALPK3</i> are associated with adult-onset autosomal dominant hypertrophic cardiomyopathy (HCMP). However, these studies were performed on patient cohorts mainly from European Caucasian backgrounds.<h4>Methods</h4>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.<h4>Results</h4>We observed that monoallelic PTVs in <i>ALPK3</i> were also si2024-01-01T00:00:00Z20242026-06-01T20:38:19.352Z2025-06-01T01:15:43.285ZS-EPMC112591243903650510.3389/fcvm.2024.1424551