title: Despite a lack of otoacoustic emission, word recognition is not seriously influenced in a TECTA DFNA8/12 family.
abstract: OBJECTIVE
  Similar to other zona pellucida mutations in the alpha-tectorin (TECTA) gene, the p.Y1870C alteration in DFNA8/12 causes prelingual, nonsyndromic, autosomal dominant hearing loss. Here we investigated the effect of p.Y1870C on reverse transduction by audiometric studies in the family.
  
  
  METHODS
  Pure tone audiometry, brainstem evoked response audiometry, the Freiburger test for speech understanding and transient evoked and distortion product otoacoustic emissions were assessed in three available affected members bearing p.Y1870C.
  
  
  RESULTS
  Pure tone audiometry showed U-shaped curves with moderate to severe degrees of hearing impairment confirmed by brainstem evoked response audiometry. Transient evoked and distortion product otoacoustic emissions were completely absent in all affected family members whereas word recognition scores were up to 95%.
  
  
  CONCLUSIONS
  Although the missense p.Y1870C TECTA mutation leads to complete failure of the cochlear amplifier in humans, very high speech perception scores can be achieved with appropriate therapy.
authors.affiliation: Department of Otorhinolaryngology, Medical University of Vienna, Vienna, Austria.
authors.forename: Reinhard
authors.initials: R
authors.lastname: Ramsebner
authors.affiliation: Department of Otorhinolaryngology, Medical University of Vienna, Vienna, Austria.
authors.forename: Martin
authors.initials: M
authors.lastname: Koenighofer
authors.affiliation: Department of Otorhinolaryngology, Medical University of Vienna, Vienna, Austria.
authors.forename: Thomas
authors.initials: T
authors.lastname: Parzefall
authors.affiliation: Center of Anatomy and Cell Biology, Medical University of Vienna, Vienna, Austria.
authors.forename: Trevor
authors.initials: T
authors.lastname: Lucas
authors.affiliation: Center of Anatomy and Cell Biology, Medical University of Vienna, Vienna, Austria.
authors.forename: Christian
authors.initials: C
authors.lastname: Schoefer
authors.affiliation: Department of Otorhinolaryngology, Medical University of Vienna, Vienna, Austria. Electronic address: klemens.frei@meduniwien.ac.at.
authors.forename: Klemens
authors.initials: K
authors.lastname: Frei
mesh_terms: D000328:Adult; D001301:Audiometry, Pure-Tone / Q000379:methods; D001317:Austria; D016057:Evoked Potentials, Auditory, Brain Stem / Q000235:genetics*; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D058851:GPI-Linked Proteins / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis* / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D017084:Otoacoustic Emissions, Spontaneous / Q000235:genetics*; D010375:Pedigree; D013067:Speech Perception; D055815:Young Adult
chemical_list: D016326:Extracellular Matrix Proteins; D058851:GPI-Linked Proteins; C491350:TECTA protein, human
keywords: Autosomal dominant; DFNA8/12; Hearing impairment; OAE; TECTA; p.Y1870C