RGD Reference Report - New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma. - Rat Genome Database

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New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma.

Authors: Iossa, S  Chinetti, V  Auletta, G  Laria, C  De Luca, M  Rienzo, M  Giannini, P  Delfino, M  Ciccodicola, A  Marciano, E  Franze, A 
Citation: Iossa S, etal., Am J Med Genet A. 2009 Feb 15;149A(4):685-8. doi: 10.1002/ajmg.a.32462.
RGD ID: 11097846
Pubmed: PMID:18688874   (View Abstract at PubMed)
DOI: DOI:10.1002/ajmg.a.32462   (Journal Full-text)

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].

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
palmoplantar keratoderma-deafness syndrome  IAGP 11097846DNA:missense mutation:cds:p.G130V(human)RGD 
palmoplantar keratoderma-deafness syndrome  ISOGJB2 (Homo sapiens)11097846; 11097846DNA:missense mutation:cds:p.G130V(human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Gjb2  (gap junction protein, beta 2)

Genes (Mus musculus)
Gjb2  (gap junction protein, beta 2)

Genes (Homo sapiens)
GJB2  (gap junction protein beta 2)


Additional Information