These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: A novel missense mutation in the Connexin 26 gene associated with autosomal recessive sensorineural deafness.
    Author: Leshinsky-Silver E, Berman Z, Vinkler C, Yannov-Sharav M, Lev D.
    Journal: Hear Res; 2005 Apr; 202(1-2):258-61. PubMed ID: 15811717.
    Abstract:
    Mutations in the Connexin 26 (Cx26) gene (GJB2) are a common cause of hereditary hearing impairment. We report the identification of a novel point mutation in the Cx26 gene, Leu205Pro(L205P), linked to familial, autosomal recessive sensorineural hearing loss. This missense mutation, causing amino acid leucine at position 205 to be substituted by proline, is located in the highly conserved sequence of the fourth transmembrane domain (TM4) of Cx26. Hearing loss with this mutation occurred in a Georgian Jewish family, was congenital, moderate to profound and nonprogressive. We have shown that the new mutation L205P in Cx26 is strongly associated with congenital NSHL. Multiple-sample screening for this mutation can be easily performed with a mismatch PCR that creates a restriction site.
    [Abstract] [Full Text] [Related] [New Search]