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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| Published in | British journal of dermatology (1951) Vol. 187; no. 6; pp. 1045 - 1048 |
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| Main Authors | , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
England
Oxford University Press
01.12.2022
John Wiley and Sons Inc |
| Subjects | |
| Online Access | Get full text |
| ISSN | 0007-0963 1365-2133 1365-2133 |
| DOI | 10.1111/bjd.21832 |
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| 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. |
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| AbstractList | 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. 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.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. |
| Author | Akker, Peter C. Gaytan, Antonio Esquivel McGaughran, Julie Spaendonck‐Zwarts, Karin Y. Murrell, Dedee F. Cowan, Timothy Vermeer, Mathilde C.S.C. Silljé, Herman H.W. Bolling, Maria C. Meer, Peter Al‐Shinnag, Mohammad Melbourne, Wei |
| AuthorAffiliation | 7 Department of Dermatology (Center for Blistering Diseases) University of Groningen, University Medical Center Groningen Groningen the Netherlands 4 Department of Dermatology St George Hospital Kogarah NSW Australia 5 Faculty of Medicine University of New South Wales Sydney Australia 3 Faculty of Medicine University of Queensland Brisbane Australia 6 Department of Genetics (Center for Blistering Diseases) University of Groningen, University Medical Center Groningen Groningen the Netherlands 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 |
| AuthorAffiliation_xml | – name: 2 Genetic Health Queensland Royal Brisbane and Women’s Hospital Brisbane Australia – name: 1 Departments of Cardiology, (Center for Blistering Diseases) University of Groningen, University Medical Center Groningen Groningen the Netherlands – name: 4 Department of Dermatology St George Hospital Kogarah NSW Australia – name: 6 Department of Genetics (Center for Blistering Diseases) University of Groningen, University Medical Center Groningen Groningen the Netherlands – name: 7 Department of Dermatology (Center for Blistering Diseases) University of Groningen, University Medical Center Groningen Groningen the Netherlands – name: 5 Faculty of Medicine University of New South Wales Sydney Australia – name: 3 Faculty of Medicine University of Queensland Brisbane Australia |
| Author_xml | – sequence: 1 givenname: Mathilde C.S.C. orcidid: 0000-0001-8513-2296 surname: Vermeer fullname: Vermeer, Mathilde C.S.C. organization: University of Groningen, University Medical Center Groningen – sequence: 2 givenname: Mohammad surname: Al‐Shinnag fullname: Al‐Shinnag, Mohammad organization: University of Queensland – sequence: 3 givenname: Herman H.W. surname: Silljé fullname: Silljé, Herman H.W. organization: University of Groningen, University Medical Center Groningen – sequence: 4 givenname: Antonio Esquivel surname: Gaytan fullname: Gaytan, Antonio Esquivel organization: University of Groningen, University Medical Center Groningen – sequence: 5 givenname: Dedee F. orcidid: 0000-0003-2971-0199 surname: Murrell fullname: Murrell, Dedee F. organization: University of New South Wales – sequence: 6 givenname: Julie surname: McGaughran fullname: McGaughran, Julie organization: University of Queensland – sequence: 7 givenname: Wei surname: Melbourne fullname: Melbourne, Wei organization: St George Hospital – sequence: 8 givenname: Timothy surname: Cowan fullname: Cowan, Timothy organization: University of New South Wales – sequence: 9 givenname: Peter C. surname: Akker fullname: Akker, Peter C. organization: University of Groningen, University Medical Center Groningen – sequence: 10 givenname: Karin Y. surname: Spaendonck‐Zwarts fullname: Spaendonck‐Zwarts, Karin Y. organization: University of Queensland – sequence: 11 givenname: Peter orcidid: 0000-0002-9705-4413 surname: Meer fullname: Meer, Peter organization: University of Groningen, University Medical Center Groningen – sequence: 12 givenname: Maria C. orcidid: 0000-0003-2086-9363 surname: Bolling fullname: Bolling, Maria C. email: m.c.bolling@umcg.nl organization: University of Groningen, University Medical Center Groningen |
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| Cites_doi | 10.1016/j.ajhg.2016.11.005 10.1093/hmg/ddz032 10.1038/ng.3701 10.1016/j.jid.2017.01.004 10.1016/j.jid.2021.12.027 10.1016/j.jid.2018.07.022 10.1371/journal.pgen.1003529 10.1172/JCI140615 |
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| DocumentTitleAlternate | A translation re‐initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation |
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| Notes | 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. ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 content type line 23 ObjectType-Correspondence-1 |
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| References | 2019; 28 2022; 142 2021; 131 2019; 139 2016; 48 2017; 137 2013; 9 2016; 99 Vermeer (2023010808110040400_bjd21832-bib-0003) 2021; 131 He (2023010808110040400_bjd21832-bib-0002) 2016; 99 Schwieger-Briel (2023010808110040400_bjd21832-bib-0005) 2019; 139 Lin (2023010808110040400_bjd21832-bib-0001) 2016; 48 Lee (2023010808110040400_bjd21832-bib-0004) 2017; 137 Barbosa (2023010808110040400_bjd21832-bib-0006) 2013; 9 Hedberg-Oldfors (2023010808110040400_bjd21832-bib-0007) 2019; 28 Vermeer (2023010808110040400_bjd21832-bib-0008) 2022; 142 |
| References_xml | – volume: 48 start-page: 1504 year: 2016 end-page: 16 article-title: Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility publication-title: Nat Genet – volume: 139 start-page: 244 year: 2019 end-page: 9 article-title: Epidermolysis bullosa simplex with KLHL24 mutations is associated with dilated cardiomyopathy publication-title: J Invest Dermatol – volume: 28 start-page: 1919 year: 2019 end-page: 29 article-title: Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24 publication-title: Hum Mol Genet – volume: 131 year: 2021 article-title: Gain‐of‐function mutation in ubiquitin‐ligase KLHL24 causes desmin degradation and dilatation in hiPSC‐derived engineered heart tissues publication-title: J Clin Invest – volume: 137 start-page: 1378 year: 2017 end-page: 80 article-title: Mutations in KLHL24 add to the molecular heterogeneity of epidermolysis bullosa simplex publication-title: J Invest Dermatol – volume: 142 start-page: 2271 year: 2022 end-page: 74.e6 article-title: K14 degradation and ageing in epidermolysis bullosa simplex due to KLHL24 gain‐of‐function mutations publication-title: J Invest Dermatol – volume: 9 year: 2013 article-title: Gene expression regulation by upstream open reading frames and human disease publication-title: PLoS Genet – volume: 99 start-page: 1395 year: 2016 end-page: 404 article-title: Monoallelic mutations in the translation initiation codon of KLHL24 cause skin fragility publication-title: Am J Hum Genet – volume: 99 start-page: 1395 year: 2016 ident: 2023010808110040400_bjd21832-bib-0002 article-title: Monoallelic mutations in the translation initiation codon of KLHL24 cause skin fragility publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2016.11.005 – volume: 28 start-page: 1919 year: 2019 ident: 2023010808110040400_bjd21832-bib-0007 article-title: Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24 publication-title: Hum Mol Genet doi: 10.1093/hmg/ddz032 – volume: 48 start-page: 1504 year: 2016 ident: 2023010808110040400_bjd21832-bib-0001 article-title: Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility publication-title: Nat Genet doi: 10.1038/ng.3701 – volume: 137 start-page: 1378 year: 2017 ident: 2023010808110040400_bjd21832-bib-0004 article-title: Mutations in KLHL24 add to the molecular heterogeneity of epidermolysis bullosa simplex publication-title: J Invest Dermatol doi: 10.1016/j.jid.2017.01.004 – volume: 142 start-page: 2271 year: 2022 ident: 2023010808110040400_bjd21832-bib-0008 article-title: K14 degradation and ageing in epidermolysis bullosa simplex due to KLHL24 gain-of-function mutations publication-title: J Invest Dermatol doi: 10.1016/j.jid.2021.12.027 – volume: 139 start-page: 244 year: 2019 ident: 2023010808110040400_bjd21832-bib-0005 article-title: Epidermolysis bullosa simplex with KLHL24 mutations is associated with dilated cardiomyopathy publication-title: J Invest Dermatol doi: 10.1016/j.jid.2018.07.022 – volume: 9 year: 2013 ident: 2023010808110040400_bjd21832-bib-0006 article-title: Gene expression regulation by upstream open reading frames and human disease publication-title: PLoS Genet doi: 10.1371/journal.pgen.1003529 – volume: 131 year: 2021 ident: 2023010808110040400_bjd21832-bib-0003 article-title: Gain-of-function mutation in ubiquitin-ligase KLHL24 causes desmin degradation and dilatation in hiPSC-derived engineered heart tissues publication-title: J Clin Invest doi: 10.1172/JCI140615 |
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| Snippet | 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... 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... |
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| SubjectTerms | 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 |
| Title | A translation re‐initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation |
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