title: A novel missense mutation in the Connexin 26 gene associated with autosomal recessive sensorineural deafness.
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.
authors.affiliation: Molecular Genetic Laboratory, Wolfson Medical Center, Holon, Israel. leshinsky@wolfson.health.gov.il
authors.forename: E
authors.initials: E
authors.lastname: Leshinsky-Silver
authors.forename: Z
authors.initials: Z
authors.lastname: Berman
authors.forename: C
authors.initials: C
authors.lastname: Vinkler
authors.forename: M
authors.initials: M
authors.lastname: Yannov-Sharav
authors.forename: D
authors.initials: D
authors.lastname: Lev
mesh_terms: D000483:Alleles; D001483:Base Sequence; D002648:Child; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D017124:Conserved Sequence; D003596:Cytosine; D005260:Female; D005808:Genes, Recessive; D006319:Hearing Loss, Sensorineural / Q000235:genetics* / Q000503:physiopathology; D006720:Homozygote; D006801:Humans; D007930:Leucine; D020125:Mutation, Missense; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length; D011392:Proline; D013941:Thymine
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26; D003596:Cytosine; D011392:Proline; D007930:Leucine; D013941:Thymine