A translation re-initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation.
editorial · Level V
Where this comes from
- Record sourced from PubMed, PMID 35975634.
- Also identified by DOI 10.1111/bjd.21832 and PMC identifier 10087812.
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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.
Medical subject headings
- Cardiomyopathy, Dilated
- Epidermolysis Bullosa Simplex
- Repressor Proteins