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

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.

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Bibliographic Details
Published inBritish journal of dermatology (1951) Vol. 187; no. 6; pp. 1045 - 1048
Main Authors Vermeer, Mathilde C.S.C., Al‐Shinnag, Mohammad, Silljé, Herman H.W., Gaytan, Antonio Esquivel, Murrell, Dedee F., McGaughran, Julie, Melbourne, Wei, Cowan, Timothy, Akker, Peter C., Spaendonck‐Zwarts, Karin Y., Meer, Peter, Bolling, Maria C.
Format Journal Article
LanguageEnglish
Published England Oxford University Press 01.12.2022
John Wiley and Sons Inc
Subjects
Cardiomyopathy
Cardiomyopathy, Dilated - genetics
Codon, Initiator
Dilated cardiomyopathy
Epidermolysis bullosa
Epidermolysis Bullosa Simplex - genetics
Humans
Intermediate Filaments
Mutation - genetics
Nucleotides
Phenotype
Phenotypes
Repressor Proteins - genetics
Research Letter
Research Letters
Translation initiation
Online AccessGet full text
ISSN0007-0963
1365-2133
1365-2133
DOI10.1111/bjd.21832

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Summary: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.
Bibliography:Data availability: The data that support the findings of this study are available from the corresponding author upon reasonable request.
Funding sources: This work was funded by the Human Frontier Science Program (grant number RGY 0071/2014 to P.v.d.M.), Vlinderkind (no grant number; patient organization funding to M.C.B.) and the European Research Counsel [STOP‐HF (StG); grant number 715732, ERC‐2016‐STG to P.v.d.M.]. None of the funders had a role in the design and conduct of the study; collection, management, analysis and interpretation of the data; preparation, review or approval of the manuscript; and decision to submit the manuscript for publication.
Conflicts of interest: the authors declare they have no conflicts of interest.
M.C.S.C.V., M.A‐S. and H.H.W.S. contributed equally.
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ISSN:0007-0963
1365-2133
1365-2133
DOI:10.1111/bjd.21832