2026-07-21T16:08:01Zhttps://repisalud.isciii.es/rest/oai/requestoai:repisalud.isciii.es:20.500.12105/182302024-09-27T12:06:42Zcom_20.500.12105_15322com_20.500.12105_2051col_20.500.12105_16927col_20.500.12105_16960col_20.500.12105_16966col_20.500.12105_16970col_20.500.12105_16976
Repisalud
author
Lopes, Luis R
author
Garcia-Hernández, Soledad
author
Lorenzini, Massimiliano
author
Futema, Marta
author
Chumakova, Olga
author
Zateyshchikov, Dmitry
author
Isidoro-Garcia, Maria
author
Villacorta, Eduardo
author
Escobar-Lopez, Luis
author
Garcia-Pavia, Pablo
author
Bilbao, Raquel
author
Dobarro, David
author
Sandin-Fuentes, Maria
author
Catalli, Claudio
author
Gener Querol, Blanca
author
Mezcua, Ainhoa
author
Garcia Pinilla, Jose
author
Bloch Rasmussen, Torsten
author
Ferreira-Aguar, Ana
author
Revilla-Martí, Pablo
author
Basurte Elorz, Maria Teresa
author
Bautista Paves, Alicia
author
Ramon Gimeno, Juan
author
Figueroa, Ana Virginia
author
Franco-Gutierrez, Raul
author
Fuentes-Cañamero, Maria Eugenia
author
Martinez Moreno, Marina
author
Ortiz-Genga, Martin
author
Piqueras-Flores, Jesus
author
Analia Ramos, Karina
author
Rudzitis, Ainars
author
Ruiz-Guerrero, Luis
author
Stein, Ricardo
author
Triguero-Bocharán, Mayte
author
de la Higuera, Luis
author
Ochoa, Juan Pablo
author
Abu-Bonsrah, Dad
author
Kwok, Cecilia Y T
author
Smith, Jacob B
author
Porrello, Enzo R
author
Akhtar, Mohammed M
author
Jager, Joanna
author
Ashworth, Michael
author
Syrris, Petros
author
Elliott, David A
author
Monserrat, Lorenzo
author
Elliott, Perry M
2024-02-19T15:24:41Z
2024-02-19T15:24:41Z
2021
10.1093/eurheartj/ehab424
1522-9645
European heart journal
http://hdl.handle.net/10668/18201
34263907
http://hdl.handle.net/20.500.12105/18230
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.
eng
ALPK3
Genetics
Hypertrophic cardiomyopathy
Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy.
research article