title: Novel mutations in GJB6 and GJB2 in Clouston syndrome.
abstract: 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.
authors: Department of Dermatology, Northwest hospital, Xi'an Jiaotong University, Xi'an, China.
authors: Y T
authors: YT
authors: Liu
authors: Department of Dermatology, Northwest hospital, Xi'an Jiaotong University, Xi'an, China.
authors: K
authors: K
authors: Guo
authors: Department of Dermatology, Northwest hospital, Xi'an Jiaotong University, Xi'an, China.
authors: J
authors: J
authors: Li
authors: Department of Dermatology, Northwest hospital, Xi'an Jiaotong University, Xi'an, China.
authors: Y
authors: Y
authors: Liu
authors: Department of Dermatology, Northwest hospital, Xi'an Jiaotong University, Xi'an, China.
authors: W H
authors: WH
authors: Zeng
authors: Department of Dermatology, Northwest hospital, Xi'an Jiaotong University, Xi'an, China.
authors: S M
authors: SM
authors: Geng
mesh_terms: D000072259:Connexin 26; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics*; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D006801:Humans; D008875:Middle Aged; D020125:Mutation, Missense; D009260:Nail Diseases / Q000235:genetics
chemical_list: D000075302:Connexin 30; D017630:Connexins; C000607042:GJB2 protein, human; C491020:GJB6 protein, human; D000072259:Connexin 26