Identification of mutations in U2HR in two Chinese families with Marie Unna hereditary hypotrichosis.

Abstract

Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant genodermatosis characterized by coarse, wiry, twisted hair developing during early childhood, with subsequent progressive hair loss. Recently, mutations in U2HR, an inhibitory upstream open reading frame in the 5' untranslated region of the human hairless gene (HR), were identified as the underlying cause of MUHH. We investigated two unrelated Chinese multigenerational families with MUHH. By sequencing U2HR in the two families, we identified two previously reported mutations, c.1A >T (p.Met1?) and c.104A>G (p*35Wext1263*). Both these mutations cosegregated with the disease phenotype in the two families.