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.

Automated summary

This study suggests that gain-of-function variants in KLHL24 causing EBS and DCM may not only originate in the start-codon, and any nonsense-inducing variant affecting nucleotides c.4_84 is likely to have the same effect on protein level and result in a similar potential lethal phenotype.