TY - JOUR
T1 - Clinical Outcome in KLHL24 Cardiomyopathy
AU - Vermeer, Mathilde C S C
AU - Arevalo Gomez, Karla F
AU - Hoes, Martijn F
AU - Tromp, Jasper
AU - Verdonschot, Job A J
AU - Henkens, Michiel T H M
AU - Silljé, Herman H W
AU - Bolling, Maria C
AU - van der Meer, Peter
PY - 2023/5/16
Y1 - 2023/5/16
N2 - 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.
AB - 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.
KW - cardiomyopathy
KW - desmin
KW - dilated
KW - heart failure
KW - hypertrophic
KW - Humans
KW - Cardiomyopathies/genetics
KW - Cardiomyopathy, Dilated
U2 - 10.1161/CIRCGEN.122.003998
DO - 10.1161/CIRCGEN.122.003998
M3 - Comment/Letter to the editor
SN - 2574-8300
VL - 16
SP - 401
EP - 403
JO - Circulation: Genomic and Precision Medicine
JF - Circulation: Genomic and Precision Medicine
IS - 4
ER -