Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy.

doi:10.1093/eurheartj/ehab424

Article

Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy.

European heart journal - 21 Aug 2021

Lopes Luis R, Garcia-Hernández Soledad, Lorenzini Massimiliano, Futema Marta, Chumakova Olga, Zateyshchikov Dmitry, Isidoro-Garcia Maria, Villacorta Eduardo, Escobar-Lopez Luis, Garcia-Pavia Pablo, Bilbao Raquel, Dobarro David, Sandin-Fuentes Maria, Catalli Claudio, Gener Querol Blanca, Mezcua Ainhoa, Garcia Pinilla Jose, Bloch Rasmussen Torsten, Ferreira-Aguar Ana, Revilla-Martí Pablo, Basurte Elorz Maria Teresa, Bautista Paves Alicia, Ramon Gimeno Juan, Figueroa Ana Virginia, Franco-Gutierrez Raul, Fuentes-Cañamero Maria Eugenia, Martinez Moreno Marina, Ortiz-Genga Martin, Piqueras-Flores Jesus, Analia Ramos Karina, Rudzitis Ainars, Ruiz-Guerrero Luis, Stein Ricardo, Triguero-Bocharán Mayte, de la Higuera Luis, Ochoa Juan Pablo, Abu-Bonsrah Dad, Kwok Cecilia Y T, Smith Jacob B, Porrello Enzo R, Akhtar Mohammed M, Jager Joanna, Ashworth Michael, Syrris Petros, Elliott David A, Monserrat Lorenzo, Elliott Perry M

Abstract excerpt

AIMS: The aim of this study was to determine the frequency of heterozygous truncating ALPK3 variants (ALPK3tv) in patients with hypertrophic cardiomyopathy (HCM) and confirm their pathogenicity using burden testing in independent cohorts and family co-segregation studies. METHODS AND RESULTS: In a discovery cohort of 770 index patients with HCM, 12 (1.56%) were heterozygous for ALPK3tv [odds ratio(OR) 16.11, 95%...

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Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy.

Abstract excerpt

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