AUTHOR=Ryu Seung Woo , Jeong Won Chan , Hong Geu Ru , Cho Jung Sun , Lee Soo Yong , Kim Hyungseop , Jang Jeong Yoon , Lee Sun Hwa , Bae Dae-Hwan , Cho Jae Yeong , Kim Ji Hee , Kim Kyung-Hee , Son Jang Won , Han Beomman , Seo Go Hun , Lee Hane 

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

JOURNAL=Frontiers in Cardiovascular Medicine

VOLUME=11

YEAR=2024

URL=https://www.frontiersin.org/journals/cardiovascular-medicine/articles/10.3389/fcvm.2024.1424551

DOI=10.3389/fcvm.2024.1424551

ISSN=2297-055X

ABSTRACT=<sec><title>Background</title><p>The alpha-protein kinase 3 (<italic>ALPK3</italic>) 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 <italic>ALPK3</italic> are associated with adult-onset autosomal dominant hypertrophic cardiomyopathy (HCMP). However, these studies were performed on patient cohorts mainly from European Caucasian backgrounds.</p></sec><sec><title>Methods</title><p>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.</p></sec><sec><title>Results</title><p>We observed that monoallelic PTVs in <italic>ALPK3</italic> were also significantly enriched in Korean patients with HCMP with an odds ratio score of 10–21.</p></sec><sec><title>Conclusions</title><p>We suggest that <italic>ALPK3</italic> PTV carriers be considered a risk group for developing HCMP and be monitored for cardiomyopathies.</p></sec>