Novel mutations in GJB6 and GJB2 in Clouston syndrome.
Clin Exp Dermatol
; 40(7): 770-3, 2015 Oct.
Article
em En
| MEDLINE
| ID: mdl-25808784
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Displasia Ectodérmica
/
Conexinas
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Mutação de Sentido Incorreto
Idioma:
En
Ano de publicação:
2015
Tipo de documento:
Article