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

Mathilde C S C VermeerMohammad Al-ShinnagHerman H W SilljéAntonio Esquivel GaytanDedee Frances MurrellJulie McGaughranWei MelbourneTimothy CowanPeter C van den AkkerKarin Y van Spaendonck-ZwartsPeter Van der Meer Marieke C Bolling

Published in: The British journal of dermatology (2022)

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.

Keyphrases

copy number
risk assessment
gene expression
protein protein
human health