Article
A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy.
Human mutation - 1 Jun 2008
Rodríguez-Ballesteros Montserrat, Reynoso Raúl, Olarte Margarita, Villamar Manuela, Morera Constantino, Santarelli Rosamaria, Arslan Edoardo, Medá Carme, Curet Carlos, Völter Christiane, Sainz-Quevedo Manuel, Castorina Pierangela, Ambrosetti Umberto, Berrettini Stefano, Frei Klemens, Tedín Socorro, Smith Janine, Cruz Tapia M, Cavallé Laura, Gelvez Nancy, Primignani Paola, Gómez-Rosas Elena, Martín Mirta, Moreno-Pelayo Miguel A, Tamayo Martalucía, Moreno-Barral José, Moreno Felipe, del Castillo Ignacio
Abstract excerpt
Autosomal recessive nonsyndromic hearing impairment (NSHI) is a heterogeneous condition, for which 53 genetic loci have been reported, and 29 genes have been identified to date. One of these, OTOF, encodes otoferlin, a membrane-anchored calcium-binding protein that plays a role in the exocytosis of synaptic vesicles at the auditory inner hair cell ribbon synapse. We have investigated the prevalence and spectrum...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.