Article
Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor.
European journal of human genetics : EJHG - 1 Dec 2002
Chapiro Elise, Feldmann Delphine, Denoyelle Françoise, Sternberg Damien, Jardel Claude, Eliot Marie-Madeleine, Bouccara Didier, Weil Dominique, Garabédian Eréa-Noel, Couderc Rémy, Petit Christine, Marlin Sandrine
Abstract excerpt
Hearing impairment is the most frequent sensory defect in children, with a genetic basis in about 50% of cases. Several point mutations and deletions in mitochondrial DNA (mtDNA) have been identified in non-syndromic sensorineural hearing loss (NSSNHL). Beside the frequent A1555G mutation, a number of mutations in tRNAs have been reported recently, but their incidence remains unknown. We identified the T7511C...
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