RT Journal Article
T1 Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy.
A1 Lopes, Luis R
A1 Garcia-Hernández, Soledad
A1 Lorenzini, Massimiliano
A1 Futema, Marta
A1 Chumakova, Olga
A1 Zateyshchikov, Dmitry
A1 Isidoro-Garcia, Maria
A1 Villacorta, Eduardo
A1 Escobar-Lopez, Luis
A1 Garcia-Pavia, Pablo
A1 Bilbao, Raquel
A1 Dobarro, David
A1 Sandin-Fuentes, Maria
A1 Catalli, Claudio
A1 Gener Querol, Blanca
A1 Mezcua, Ainhoa
A1 Garcia Pinilla, Jose
A1 Bloch Rasmussen, Torsten
A1 Ferreira-Aguar, Ana
A1 Revilla-Martí, Pablo
A1 Basurte Elorz, Maria Teresa
A1 Bautista Paves, Alicia
A1 Ramon Gimeno, Juan
A1 Figueroa, Ana Virginia
A1 Franco-Gutierrez, Raul
A1 Fuentes-Cañamero, Maria Eugenia
A1 Martinez Moreno, Marina
A1 Ortiz-Genga, Martin
A1 Piqueras-Flores, Jesus
A1 Analia Ramos, Karina
A1 Rudzitis, Ainars
A1 Ruiz-Guerrero, Luis
A1 Stein, Ricardo
A1 Triguero-Bocharán, Mayte
A1 de la Higuera, Luis
A1 Ochoa, Juan Pablo
A1 Abu-Bonsrah, Dad
A1 Kwok, Cecilia Y T
A1 Smith, Jacob B
A1 Porrello, Enzo R
A1 Akhtar, Mohammed M
A1 Jager, Joanna
A1 Ashworth, Michael
A1 Syrris, Petros
A1 Elliott, David A
A1 Monserrat, Lorenzo
A1 Elliott, Perry M
K1 ALPK3
K1 Genetics
K1 Hypertrophic cardiomyopathy
AB 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. In a discovery cohort of 770 index patients with HCM, 12 (1.56%) were heterozygous for ALPK3tv [odds ratio(OR) 16.11, 95% confidence interval (CI) 7.94-30.02, P = 8.05e-11] compared to the Genome Aggregation Database (gnomAD) population. In a validation cohort of 2047 HCM probands, 32 (1.56%) carried heterozygous ALPK3tv (OR 16.17, 95% CI 10.31-24.87, P  Heterozygous ALPK3tv are pathogenic and segregate with a characteristic HCM phenotype.
YR 2021
FD 2021
LK http://hdl.handle.net/10668/18201
UL http://hdl.handle.net/10668/18201
LA en
DS RISalud
RD Apr 7, 2025