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.[Image: see...

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Autores principales: Vermeer, Mathilde C.S.C., Al‐Shinnag, Mohammad, Silljé, Herman H.W., Gaytan, Antonio Esquivel, Murrell, Dedee F., McGaughran, Julie, Melbourne, Wei, Cowan, Timothy, van den Akker, Peter C., van Spaendonck‐Zwarts, Karin Y., van der Meer, Peter, Bolling, Maria C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Research Letters
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10087812/
https://www.ncbi.nlm.nih.gov/pubmed/35975634
http://dx.doi.org/10.1111/bjd.21832
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author Vermeer, Mathilde C.S.C.
Al‐Shinnag, Mohammad
Silljé, Herman H.W.
Gaytan, Antonio Esquivel
Murrell, Dedee F.
McGaughran, Julie
Melbourne, Wei
Cowan, Timothy
van den Akker, Peter C.
van Spaendonck‐Zwarts, Karin Y.
van der Meer, Peter
Bolling, Maria C.
author_facet Vermeer, Mathilde C.S.C.
Al‐Shinnag, Mohammad
Silljé, Herman H.W.
Gaytan, Antonio Esquivel
Murrell, Dedee F.
McGaughran, Julie
Melbourne, Wei
Cowan, Timothy
van den Akker, Peter C.
van Spaendonck‐Zwarts, Karin Y.
van der Meer, Peter
Bolling, Maria C.
author_sort Vermeer, Mathilde C.S.C.
collection PubMed
description 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.[Image: see text]
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spelling pubmed-100878122023-04-12 A translation re‐initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation Vermeer, Mathilde C.S.C. Al‐Shinnag, Mohammad Silljé, Herman H.W. Gaytan, Antonio Esquivel Murrell, Dedee F. McGaughran, Julie Melbourne, Wei Cowan, Timothy van den Akker, Peter C. van Spaendonck‐Zwarts, Karin Y. van der Meer, Peter Bolling, Maria C. Br J Dermatol Research Letters 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.[Image: see text] John Wiley and Sons Inc. 2022-09-09 2022-12 /pmc/articles/PMC10087812/ /pubmed/35975634 http://dx.doi.org/10.1111/bjd.21832 Text en © 2022 The Authors. British Journal of Dermatology published by John Wiley & Sons Ltd on behalf of British Association of Dermatologists. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Research Letters
Vermeer, Mathilde C.S.C.
Al‐Shinnag, Mohammad
Silljé, Herman H.W.
Gaytan, Antonio Esquivel
Murrell, Dedee F.
McGaughran, Julie
Melbourne, Wei
Cowan, Timothy
van den Akker, Peter C.
van Spaendonck‐Zwarts, Karin Y.
van der Meer, Peter
Bolling, Maria C.
A translation re‐initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation
title A translation re‐initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation
title_full A translation re‐initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation
title_fullStr A translation re‐initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation
title_full_unstemmed A translation re‐initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation
title_short A translation re‐initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation
title_sort translation re‐initiation variant in klhl24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation
topic Research Letters
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10087812/
https://www.ncbi.nlm.nih.gov/pubmed/35975634
http://dx.doi.org/10.1111/bjd.21832
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