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: Sandra Iossa, Viviana Chinetti, Gennaro Auletta, Carla Laria, Maria De Luca, Monica Rienzo, Pasquale Giannini, Mario Delfino, Alfredo Ciccodicola, Elio Marciano, Annamaria Franzé
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 149A Issue 4 Pg. 685-8 (Feb 15 2009) ISSN: 1552-4833 [Electronic] United States
• PMID: 18688874 (Publication Type: Case Reports, Journal Article)

Chemical References

• Connexins
• GJB2 protein, human
• Connexin 26

Topics

• Audiometry, Pure-Tone
• Child, Preschool
• Connexin 26
• Connexins (genetics)
• Female
• Genes, Dominant
• Genotype
• Hearing Loss, Sensorineural (complications, genetics, physiopathology)
• Humans
• Keratoderma, Palmoplantar (complications, genetics, pathology)
• Male
• Pedigree
• Phenotype
• Point Mutation
• Syndrome