A translation re‐initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation. (1st December 2022)

• Record Type: Journal Article
• 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; van den Akker, Peter C.; van Spaendonck‐Zwarts, Karin Y.; van der Meer, Peter; Bolling, Maria C.
• Is Part Of: British journal of dermatology. Volume 187:Number 6(2022)
• Page Start: 1045
• Page End: 1048
• Publication Date: 2022-12-01
• Subjects: Dermatology -- Periodicals; Skin -- Diseases -- Periodicals; 616.5
• DOI: 10.1111/bjd.21832
• Languages: English
• ISSNs: 0007-0963

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.