Identification of a recurrent mitochondrial mutation in a Japanese family with palmoplantar keratoderma, nail dystrophy, and deafness

Palmoplantar keratoderma (PPK) is a heterogeneous group of disorders characterized by hyperkeratosis on the palms and soles, which is largely classified into non-syndromic and syndromic forms. It is well-known that the syndromic form of PPK can be accompanied by deafness [1]. Most cases of PPK with deafness (OMIM 148350) show an autosomal dominant inheritance trait and are caused by mutations in GJB2 gene encoding a gap junction protein connexin 26 [1-3]. It has also been reported that patients with [...]