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Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24
Univ Gothenburg, Sweden.
Univ Gothenburg, Sweden.
St Georges Univ London, England.
Linköpings universitet, Institutionen för klinisk och experimentell medicin, Avdelningen för neuro- och inflammationsvetenskap. Linköpings universitet, Medicinska fakulteten. Region Östergötland, Närsjukvården i centrala Östergötland, Neurologiska kliniken.
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2019 (engelsk)Inngår i: Human Molecular Genetics, ISSN 0964-6906, E-ISSN 1460-2083, Vol. 28, nr 11, s. 1919-1929Artikkel i tidsskrift (Fagfellevurdert) Published
Abstract [en]

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 mutations in KLHL24 in two consanguineous families with HCM. Of the 11 young affected adults identified, 3 died suddenly and 1 had a cardiac transplant due to heart failure. KLHL24 is a member of the Kelch-like protein family, which acts as substrate-specific adaptors to Cullin E3 ubiquitin ligases. Endomyocardial and skeletal muscle biopsies from affected individuals of both families demonstrated characteristic alterations, including accumulation of desmin intermediate filaments. Knock-down of the zebrafish homologue klhl24a results in heart defects similar to that described for other HCM-linked genes providing additional support for KLHL24 as a HCM-associated gene. Our findings reveal a crucial role for KLHL24 in cardiac development and function.

sted, utgiver, år, opplag, sider
OXFORD UNIV PRESS , 2019. Vol. 28, nr 11, s. 1919-1929
HSV kategori
Identifikatorer
URN: urn:nbn:se:liu:diva-159277DOI: 10.1093/hmg/ddz032ISI: 000475889300014PubMedID: 30715372OAI: oai:DiVA.org:liu-159277DiVA, id: diva2:1341138
Merknad

Funding Agencies|Research Fund for Neuromuscular Disorders in West Sweden; Knut and Alice Wallenberg Foundation; Swedish Research Council [2012-2014, 2013-2546]; Swedish Heart-Lung Foundation [20180236]

Tilgjengelig fra: 2019-08-07 Laget: 2019-08-07 Sist oppdatert: 2019-08-07

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