Evidence for genotype-phenotype correlation for OTOF mutations

Muzeyyen Yildirim-Baylan, Guney Bademci, Duygu Duman, Hatice Ozturkmen-Akay, Suna Tokgoz-Yilmaz, Mustafa Tekin

Research output: Contribution to journalArticlepeer-review

10 Scopus citations


Objectives: 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.

Original languageEnglish (US)
Pages (from-to)950-953
Number of pages4
JournalInternational Journal of Pediatric Otorhinolaryngology
Issue number6
StatePublished - Jun 2014


  • Auditory neuropathy
  • Autosomal recessive
  • Hearing loss
  • OTOF

ASJC Scopus subject areas

  • Otorhinolaryngology
  • Pediatrics, Perinatology, and Child Health


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