title: Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26.
abstract: Gap junctions, which mediate rapid intercellular communication, consist of connexins, small transmembrane proteins that belong to a large family of proteins found throughout the species. Mutations in the GJB2 gene, encoding Connexin 26, can cause nonsyndromic autosomal recessive or dominant hearing loss with or without skin manifestations. A 3-yr-old Korean female and her mother presented to our clinic with diffuse hyperkeratosis of the palms and soles (May 3, 2007). Skin biopsies from the soles of both patients demonstrated histopathological evidence of palmoplantar keratoderma. The patient and a number of her maternal family members also had congenital hearing loss. The combination of congenital hearing loss and palmoplantar keratoderma, inherited as an autosomal dominant trait, led us to test for a mutation in the GJB2 gene in both patients. The results showed the R75W mutation of the GJB2 gene in both. In conclusion, the simultaneous occurrence of a GJB2 mutation in a mother and daughter suggests that R75W mutation cause autosomal dominant hearing loss presenting with palmoplantar keratoderma. To the best of our knowledge, this is the first report of a GJB2 mutation associated with syndromic autosomal dominant hearing loss and palmoplantar keratoderma in a Korean family.
authors.affiliation: Department of Dermatology, Ajou University School of Medicine, Suwon, Korea.
authors.forename: Jae Yeol
authors.initials: JY
authors.lastname: Lee
authors.forename: Sung-Il
authors.initials: SI
authors.lastname: In
authors.forename: Hyon J
authors.initials: HJ
authors.lastname: Kim
authors.forename: Seon-Yong
authors.initials: SY
authors.lastname: Jeong
authors.forename: Yun Hoon
authors.initials: YH
authors.lastname: Choung
authors.forename: You Chan
authors.initials: YC
authors.lastname: Kim
mesh_terms: D000328:Adult; D000483:Alleles; D019943:Amino Acid Substitution; D002675:Child, Preschool; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D003638:Deafness / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000150:complications / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D010375:Pedigree; D012867:Skin / Q000473:pathology
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26