Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2000-02

AUTHORS

David P Kelsell, Amanda L Wilgoss, Gabriela Richard, Howard P Stevens, Colin S Munro, Irene M Leigh

ABSTRACT

Recently, mutations in two gap junction genes, GJB2 and GJB3 (encoding Connexin 26 and Connexin 31, respectively), have been shown to underlie either inherited hearing loss and skin disease or both disorders. In this study, we have extended our analysis of a small family in which palmoplantar keratoderma and various forms of deafness is segregating. In addition to the previously described sequence variant M34T in GJB2, two other sequence variants were identified: D66H also in GJB2 and R32W in GJB3. As D66H segregated with the skin disease, it is likely to underlie the palmoplantar keratoderma. The other two gap junction variants identified may contribute to the type of hearing impairment and the variable severity of the skin disease in the family. More... »

PAGES

5200407

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200407

DOI

http://dx.doi.org/10.1038/sj.ejhg.5200407

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1028724031

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/10757647


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