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Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26.

Lee, JY; In, SI; Kim, HJ; Jeong, SY; Choung, YH; Kim, YC
Journal of Korean medical science, 25(10):1539-1542, 2010
Journal Title
Journal of Korean medical science
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.
MeSH terms
AdultAllelesAmino Acid SubstitutionChild, PreschoolConnexins/genetics*DNA Mutational AnalysisDeafness/complicationsDeafness/genetics*FemaleHumansKeratoderma, Palmoplantar/complicationsKeratoderma, Palmoplantar/genetics*Keratoderma, Palmoplantar/pathologyMutation*PedigreeSkin/pathology
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Dermatology
Journal Papers > School of Medicine / Graduate School of Medicine > Medical Genetics
Journal Papers > School of Medicine / Graduate School of Medicine > Otolaryngology
AJOU Authors
김, 현주정, 선용정, 연훈김, 유찬
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