Yildirim-Baylan, MuzeyyenBademci, GuneyDuman, DuyguOzturkmen-Akay, HaticeTokgoz-Yilmaz, SunaTekin, Mustafa2024-04-242024-04-2420140165-58761872-8464https://doi.org/10.1016/j.ijporl.2014.03.022https://hdl.handle.net/11468/15512Objectives: The aim of this study is to evaluate the auditory phenotype in subjects with OTOF gene mutations to describe genotype-phenotype correlations. Methods: Twenty-two affected members from three families with homozygous OTOF mutations were included. Nine subjects were evaluated audiologically with otoscopic examination, pure-tone audiometry, tympanometry with acoustic reflex testing, auditory brain stem responses, and otoacoustic emission tests. Results: Homozygous c.4718T>C (p.Ile1573Thr) mutation was associated with the auditory neuropathy/auditory dys-synchrony (AN/AD) phenotype and with progressive sensorineural hearing loss in four siblings in one family, while homozygous c.4467dupC (p.I1490HfsX19) was associated with severe to profound sensorineural hearing loss without AN/AD in four relatives in another family. Homozygous c.1958delC (p.Pro653LeufsX13) mutation was associated with moderate sensorineural hearing loss without AN/AD in one affected person in an additional family. Conclusions: The audiological phenotype associated with different OTOF mutations appears to be consistently different suggesting the presence of a genotype-phenotype correlation. (C) 2014 Elsevier Ireland Ltd. All rights reserved.eninfo:eu-repo/semantics/openAccessAuditory NeuropathyAutosomal RecessiveHearing LossOtofArticle786950953WOS:0003368273000122-s2.0-848999056072474645510.1016/j.ijporl.2014.03.022Q2Q3