Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24

Abstract Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disorder, yet the genetic cause of up to 50% of cases remains unknown. Here, we show that mutations in KLHL24 cause HCM in humans. Using genome-wide linkage analysis and exome sequencing, we identified homozygous...

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Published in:	Human molecular genetics 2019-06, Vol.28 (11), p.1919-1929
Main Authors:	Hedberg-Oldfors, Carola, Abramsson, Alexandra, Osborn, Daniel P S, Danielsson, Olof, Fazlinezhad, Afsoon, Nilipour, Yalda, Hübbert, Laila, Nennesmo, Inger, Visuttijai, Kittichate, Bharj, Jaipreet, Petropoulou, Evmorfia, Shoreim, Azza, Vona, Barbara, Ahangari, Najmeh, López, Marcela Dávila, Doosti, Mohammad, Banote, Rakesh Kumar, Maroofian, Reza, Edling, Malin, Taherpour, Mehdi, Zetterberg, Henrik, Karimiani, Ehsan Ghayoor, Oldfors, Anders, Jamshidi, Yalda
Format:	Article
Language:	eng
Subjects:	Adult Animals Arrhythmias, Cardiac - genetics Arrhythmias, Cardiac - mortality Arrhythmias, Cardiac - physiopathology Biochemistry & Molecular Biology Cardiac and Cardiovascular Systems Cardiomyopathy, Hypertrophic - genetics Cardiomyopathy, Hypertrophic - mortality Cardiomyopathy, Hypertrophic - pathology Death, Sudden, Cardiac - pathology desmin Desmin - genetics Disease Models, Animal expression Female Genetic Linkage - genetics Genetics & Heredity Heart Failure - genetics Heart Failure - mortality Heart Failure - physiopathology Homozygote Humans hypertrophic cardiomyopathy Kardiologi kelch-repeat superfamily Male Medicin och hälsovetenskap Mutation mutations myopathy Pedigree Phenotype proteins Repressor Proteins - genetics ubiquitin ligase Zebrafish - genetics
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