A translation re-initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation-Reference-Cited by-同舟云学术

A translation re-initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation

Published:2022-12-01 Issue:6 Volume:187 Page:1045-1048
ISSN:1365-2133
Container-title:British Journal of Dermatology
language:en
Short-container-title:

Author:

Vermeer Mathilde C.S.C.¹^ORCID,Al-Shinnag Mohammad²³,Silljé Herman H.W.¹,Gaytan Antonio Esquivel¹,Murrell Dedee F.⁴⁵^ORCID,McGaughran Julie²³,Melbourne Wei⁴,Cowan Timothy⁴⁵,van den Akker Peter C.⁶,van Spaendonck-Zwarts Karin Y.²³,van der Meer Peter¹^ORCID,Bolling Maria C.⁷^ORCID

Affiliation:

1. Departments of Cardiology, (Center for Blistering Diseases) University of Groningen, University Medical Center Groningen Groningen the Netherlands

2. Genetic Health Queensland Royal Brisbane and Women’s Hospital Brisbane Australia

3. Faculty of Medicine University of Queensland Brisbane Australia

4. Department of Dermatology St George Hospital Kogarah NSW Australia

5. Faculty of Medicine University of New South Wales Sydney Australia

6. Department of Genetics (Center for Blistering Diseases) University of Groningen, University Medical Center Groningen Groningen the Netherlands

7. Department of Dermatology (Center for Blistering Diseases) University of Groningen, University Medical Center Groningen Groningen the Netherlands

Abstract

Abstract This study shows that gain-of-function variants in KLHL24 causing EBS and DCM, do not only originate in the start-codon and suggest that any nonsense-inducing variant affecting nucleotides c.4_84 will likely cause the same effect on protein level and a similar potential lethal phenotype.

Funder

European Research Counsel

Human Frontier Science Program

Vlinderkind

Publisher

Oxford University Press (OUP)

Subject

Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjd.21832

Reference8 articles.

1. Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility;Lin;Nat Genet,2016

2. Monoallelic mutations in the translation initiation codon of KLHL24 cause skin fragility;He;Am J Hum Genet,2016

3. Gain-of-function mutation in ubiquitin-ligase KLHL24 causes desmin degradation and dilatation in hiPSC-derived engineered heart tissues;Vermeer;J Clin Invest,2021

4. Mutations in KLHL24 add to the molecular heterogeneity of epidermolysis bullosa simplex;Lee;J Invest Dermatol,2017

5. Epidermolysis bullosa simplex with KLHL24 mutations is associated with dilated cardiomyopathy;Schwieger-Briel;J Invest Dermatol,2019

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