Article
Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene.
European journal of human genetics : EJHG - 1 Apr 2004
Feldmann Delphine, Denoyelle Françoise, Loundon Natalie, Weil Dominique, Garabedian Erea-Noel, Couderc Remy, Joannard Alain, Schmerber Sébastien, Delobel Bruno, Leman Jacques, Journel Hubert, Catros Hélène, Ferrec Claude, Drouin-Garraud Valérie, Obstoy Marie-Françoise, Moati Lucien, Petit Christine, Marlin Sandrine
Abstract excerpt
Mutations in GJB2 are the most common cause of congenital nonsyndromic hearing loss. The controversial allele variant M34T has been hypothesized to cause autosomal dominant or recessive nonsyndromic hearing impairment and some in vitro data has been consistent with this hypothesis. In this report, we present the clinical and genotypic study of 11 families (seven familial forms of nonsyndromic sensorineural...
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