Clinical Outcome in KLHL24 Cardiomyopathy

被引：4

作者：

Vermeer, Mathilde C. S. C. ^{[1
,11
]}

Gomez, Karla F. Arevalo F. ^{[1
]}

Hoes, Martijn F. ^{[3
,6
,7
]}

Tromp, Jasper ^{[1
,8
,9
,10
]}

Verdonschot, Job A. J. ^{[3
]}

Henkens, Michiel T. H. M. ^{[4
,5
,7
]}

Sillje, Herman H. W. ^{[1
]}

Bolling, Maria C. ^{[2
]}

van der Meer, Peter ^{[1
,12
]}

机构：

[1] Univ Groningen, Univ Med Ctr Groningen, Ctr Blistering Dis, Dept Cardiol, Groningen, Netherlands

[2] Univ Groningen, Univ Med Ctr Groningen, Ctr Blistering Dis, Dept Dermatol, Groningen, Netherlands

[3] Maastricht Univ, Dept Clin Genet, Med Ctr, Maastricht, Netherlands

[4] Maastricht Univ, Dept Cardiol, Med Ctr, Maastricht, Netherlands

[5] Maastricht Univ, Dept Pathol, Med Ctr, Maastricht, Netherlands

[6] Maastricht Univ, Fac Hlth Med & Life Sci, Dept Cardiol, Maastricht, Netherlands

[7] CARIM Sch Cardiovasc Dis, Maastricht, Netherlands

[8] Natl Univ Singapore, Saw Swee Hock Sch Publ Hlth, Singapore, Singapore

[9] Natl Univ Hlth Syst, Singapore, Singapore

[10] Duke NUS Med Sch Singapore, Singapore, Singapore

[11] Univ Groningen, Univ Med Ctr Groningen, Dept Cardiol, Antonius Deusinglaan 1, NL-9713 AV Groningen, Netherlands

[12] Univ Groningen, Univ Med Ctr Groningen, Dept Cardiol, Hanzeplein 1, NL-9713 GZ Groningen, Netherlands

来源：

CIRCULATION-GENOMIC AND PRECISION MEDICINE | 2023年 / 16卷 / 04期

关键词：

cardiomyopathy; dilated; hypertrophic; desmin; heart failure;

D O I：

10.1161/CIRCGEN.122.003998

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Pathogenic variants in Kelch-like family member 24 ( as a new cause for skin fragility KLHL24; NM_017644.3) were recently identified and cardiomyopathy. KLHL24 is part of a ubiquitin-ligase complex and mediates substrate recognition of intermediate filaments for proteasomal degradation (ie, keratins,1,2 vimentin,2 and desmin3,4). Several studies have shown that patients with heterozygous gain-of-function variants (HET-GOF), typically born with epidermolysis bullosa simplex,1,2 can develop dilated cardiomyopathy (DCM) with desmin-deficiency.3 Meanwhile, hypertrophic cardiomyopathy (HCM) with desmin-overload has been determined in patients with homozygous loss-of-function variants (HOM-LOF).4 This meta-analysis aims to summarize the findings of previous patient studies to determine the clinical outcome in KLHL24 cardiomyopathy. © 2019 Medical Journal of Babylon | Published by Wolters Kluwer - Medknow.

引用

页码：401 / 403

页数：3

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