A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy
✍ Scribed by Montserrat Rodríguez-Ballesteros; Raúl Reynoso; Margarita Olarte; Manuela Villamar; Constantino Morera; Rosamaria Santarelli; Edoardo Arslan; Carme Medá; Carlos Curet; Christiane Völter; Manuel Sainz-Quevedo; Pierangela Castorina; Umberto Ambrosetti; Stefano Berrettini; Klemens Frei; Socorro Tedín; Janine Smith; M. Cruz Tapia; Laura Cavallé; Nancy Gelvez; Paola Primignani; Elena Gómez-Rosas; Mirta Martín; Miguel A. Moreno-Pelayo; Martalucía Tamayo; José Moreno-Barral; Felipe Moreno; Ignacio del Castillo
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 242 KB
- Volume
- 29
- Category
- Article
- ISSN
- 1059-7794
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✦ Synopsis
Communicated by Dvorah Abeliovich
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 of deafnesscausing mutations in the OTOF gene. Cohorts of 708 Spanish, 83 Colombian, and 30 Argentinean unrelated subjects with autosomal recessive NSHI were screened for the common p.Gln829X mutation. In compound heterozygotes, the second mutant allele was identified by DNA sequencing. In total, 23 Spanish, two Colombian