Article
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.
European journal of human genetics : EJHG - 1 Jun 2006
Albert Sébastien, Blons Hélène, Jonard Laurence, Feldmann Delphine, Chauvin Pierre, Loundon Nathalie, Sergent-Allaoui Annie, Houang Muriel, Joannard Alain, Schmerber Sébastien, Delobel Bruno, Leman Jacques, Journel Hubert, Catros Hélène, Dollfus Hélène, Eliot Marie-Madeleine, David Albert, Calais Catherine, Drouin-Garraud Valérie, Obstoy Marie-Françoise, Tran Ba Huy Patrice, Lacombe Didier, Duriez Françoise, Francannet Christine, Bitoun Pierre, Petit Christine, Garabédian Eréa-Noël, Couderc Rémy, Marlin Sandrine, Denoyelle Françoise
Abstract excerpt
Sensorineural hearing loss is the most frequent sensory deficit of childhood and is of genetic origin in up to 75% of cases. It has been shown that mutations of the SLC26A4 (PDS) gene were involved in syndromic deafness characterized by congenital sensorineural hearing impairment and goitre (Pendred's syndrome), as well as in congenital isolated deafness (DFNB4). While the prevalence of SLC26A4 mutations in...
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