title: New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma.
abstract: The GJB2 gene located on chromosome 13q12 and encoding the connexin 26 (Cx26) protein, a transmembrane protein involved in cell-cell attachment of almost all tissues, including the skin, causes autosomal recessive and sometimes dominant nonsyndromic sensorineural hearing loss. GJB2 mutations have also been identified in syndromic disorders exhibiting hearing loss associated with skin problems. Recently, a new mutation, p.G130V in the GJB2 gene has been reported as causative for Vohwinkel syndrome. In this case the p.G130V mutation was found in two patients (son and father) with palmoplantar keratoderma. The father also showed also skin constrictions of the 2nd and 3rd toes of the right foot. Here, we report on another family with palmoplantar keratoderma associated with a dominant form of hearing loss confirming the genotype-phenotype correlation between the mutation p.G130V and the skin abnormalities observed in syndromic disorders with hearing loss as described by [Snoeckx et al. (2005) Hum Mutat 26:60-65].
authors.affiliation: Unit of Audiology, Department of Neurosciences, University of Naples Federico II, Naples, Italy.
authors.forename: Sandra
authors.initials: S
authors.lastname: Iossa
authors.forename: Viviana
authors.initials: V
authors.lastname: Chinetti
authors.forename: Gennaro
authors.initials: G
authors.lastname: Auletta
authors.forename: Carla
authors.initials: C
authors.lastname: Laria
authors.forename: Maria
authors.initials: M
authors.lastname: De Luca
authors.forename: Monica
authors.initials: M
authors.lastname: Rienzo
authors.forename: Pasquale
authors.initials: P
authors.lastname: Giannini
authors.forename: Mario
authors.initials: M
authors.lastname: Delfino
authors.forename: Alfredo
authors.initials: A
authors.lastname: Ciccodicola
authors.forename: Elio
authors.initials: E
authors.lastname: Marciano
authors.forename: Annamaria
authors.initials: A
authors.lastname: Franzé
mesh_terms: D001301:Audiometry, Pure-Tone; D002675:Child, Preschool; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D005838:Genotype; D006319:Hearing Loss, Sensorineural / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D008297:Male; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D013577:Syndrome
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26