Article
New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma.
American journal of medical genetics. Part A - 15 Feb 2009
Iossa Sandra, Chinetti Viviana, Auletta Gennaro, Laria Carla, De Luca Maria, Rienzo Monica, Giannini Pasquale, Delfino Mario, Ciccodicola Alfredo, Marciano Elio, Franzé Annamaria
Abstract excerpt
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...
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