{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["11"],"submitter":["Ryu SW"],"pubmed_abstract":["<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 si"],"journal":["Frontiers in cardiovascular medicine"],"pagination":["1424551"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11259124"],"repository":["biostudies-literature"],"pubmed_title":["High prevalence of <i>ALPK3</i> premature terminating variants in Korean hypertrophic cardiomyopathy patients."],"pmcid":["PMC11259124"],"pubmed_authors":["Seo GH","Hong GR","Cho JY","Kim H","Lee SH","Lee H","Son JW","Jeong WC","Jang JY","Han B","Lee SY","Ryu SW","Kim JH","Bae DH","Kim KH","Cho JS"],"additional_accession":[]},"is_claimable":false,"name":"High prevalence of <i>ALPK3</i> premature terminating variants in Korean hypertrophic cardiomyopathy patients.","description":"<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 si","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024","modification":"2026-06-01T20:38:19.352Z","creation":"2025-06-01T01:15:43.285Z"},"accession":"S-EPMC11259124","cross_references":{"pubmed":["39036505"],"doi":["10.3389/fcvm.2024.1424551"]}}