title: Evidence for genotype-phenotype correlation for OTOF mutations.
abstract: OBJECTIVE
  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.
authors.affiliation: Department of Otorhinolaryngology, Dicle University School of Medicine, Diyarbakir, Turkey. Electronic address: muzeyyenyldrm@hotmail.com.
authors.forename: Muzeyyen
authors.initials: M
authors.lastname: Yildirim-Baylan
authors.affiliation: Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, United States.
authors.forename: Guney
authors.initials: G
authors.lastname: Bademci
authors.affiliation: Division of Genetics, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey.
authors.forename: Duygu
authors.initials: D
authors.lastname: Duman
authors.affiliation: Department of Radiology, Istanbul Zeynep Kamil Maternity and Children Training and Research Hospital, Istanbul, Turkey.
authors.forename: Hatice
authors.initials: H
authors.lastname: Ozturkmen-Akay
authors.affiliation: Division of Genetics, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey.
authors.forename: Suna
authors.initials: S
authors.lastname: Tokgoz-Yilmaz
authors.affiliation: Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, United States; Division of Genetics, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey. Electronic address: mtekin@med.miami.edu.
authors.forename: Mustafa
authors.initials: M
authors.lastname: Tekin
mesh_terms: D000158:Acoustic Impedance Tests; D000293:Adolescent; D000328:Adult; D001299:Audiometry; D001301:Audiometry, Pure-Tone; D002648:Child; D016057:Evoked Potentials, Auditory, Brain Stem; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D055815:Young Adult
chemical_list: D008565:Membrane Proteins; C118457:OTOF protein, human
keywords: Auditory neuropathy; Autosomal recessive; Hearing loss; OTOF
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