title: A novel connexin 30 mutation in Clouston syndrome.
abstract: Clouston syndrome (hidrotic ectodermal dysplasia) is an autosomal dominant ectodermal dysplasia characterized by alopecia, palmoplantar hyperkeratosis, and nail dystrophy. Recently, mutations in the GJB6 gene encoding the gap junction protein connexin 30 have been shown to cause this disorder. To date, all mutations have involved two codons: G11R and A88V. Here, we report a novel mutation V37E within the first transmembrane domain of connexin 30 in a spontaneous case of Clouston syndrome. The mutation was detected in genomic DNA, confirmed in reverse transcription polymerase chain reaction products, and was excluded from 100 ethnically matched control individuals by restriction enzyme analysis.
authors.affiliation: Epithelial Genetics Group, Human Genetics Unit, Department of Molecular and Cellular Pathology, Ninewells Medical School, Dundee, UK.
authors.forename: Frances J D
authors.initials: FJ
authors.lastname: Smith
authors.forename: Susan M
authors.initials: SM
authors.lastname: Morley
authors.forename: W H Irwin
authors.initials: WH
authors.lastname: McLean
mesh_terms: D000328:Adult; D000505:Alopecia / Q000235:genetics / Q000473:pathology; D001483:Base Sequence / Q000235:genetics; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics*; D004476:Ectodermal Dysplasia / Q000235:genetics* / Q000473:pathology; D005260:Female; D006579:Heterozygote; D006801:Humans; D020125:Mutation, Missense / Q000235:genetics*; D009260:Nail Diseases / Q000235:genetics / Q000473:pathology; D009262:Nails / Q000473:pathology; D011110:Polymorphism, Genetic
chemical_list: D000075302:Connexin 30; D017630:Connexins; C491020:GJB6 protein, human