Novel mutations in GJB6 and GJB2 in Clouston syndrome

摘要

Clouston syndrome (CS; also termed hidrotic ectodermal dysplasia) is a rare autosomal dominant genetic skin disorder, characterized by alopecia, nail dystrophy, and palmoplantar hyperkeratosis. Mutations in the GJB6 gene, which encodes the gap junction protein connexin 30, have been shown to cause this disorder. To date, four mutations of GJB6 have been found in patients with CS: G11R, V37E, D50N and A88V. Mutations in GJA1 (V41L) and GJB2 (R127H) are also related to CS. We found a novel missense mutation, N14S, in GJB6 and the previously identified F191L mutation in GJB2 (Cx26) in a proband with CS in a Han Chinese pedigree; these mutations were not found in 200 ethnically matched nonconsanguineous Han Chinese controls.