Parents

Pathogenic variants of the KLHL24 gene cause an autosomal dominant (from affected people, 50% risk of transmission to the next generation) form of skin blistering disorder with cardiomyopathy, or autosomal recessive (from unaffected carrier parents 25% risk of transmission to the next generation) hypertrophic cardiomyopathy causing lethal arrhythmias and heart failure. Worldwide about 45 cases have been reported with epidermolysis bullosa simplex (EBS) due to KLHL24 pathogenic variants, but the real number is probably higher. Only two families with autosomal recessive cardiomyopathy with KLHL24 pathogenic variants are known so far.