Article
Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).
Human mutation - 1 Dec 2003
Rodríguez-Ballesteros Montserrat, del Castillo Francisco J, Martín Yolanda, Moreno-Pelayo Miguel A, Morera Constantino, Prieto Félix, Marco Jaime, Morant Antonio, Gallo-Terán Jaime, Morales-Angulo Carmelo, Navas Cristina, Trinidad Germán, Tapia M Cruz, Moreno Felipe, del Castillo Ignacio
Abstract excerpt
Inherited hearing impairment affects one in 2,000 newborns. Nonsyndromic prelingual forms are inherited mainly as autosomal recessive traits, for which 16 genes are currently known. Mutations in the genes encoding connexins 26 and 30 account for up to 50% of these cases. However, the individual contribution of the remaining genes to the whole remains undetermined. In addition, for most of the genes there is a...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.