title: [Evaluation of a family with sensorineural hearing loss due to the Q829X mutation in the OTOF gene].
abstract: OBJECTIVE
  To determine the features of hearing loss due to the Q829X mutation in the OTOF gene, the third most frequent mutation causing prelingual deafness reported so far in the Spanish population.
  
  
  METHODS
  We carried out genetic characterisation of 16 individuals from a consanguineous family from Cantabria, in which 4 members were affected by deafness.
  
  
  RESULTS
  All 4 hearing impaired individuals were homozygous for the Q829X mutation in the OTOF gene. The auditory defect was a profound, bilateral, symmetrical, sensorineural hearing loss of prelingual onset. No other clinical alterations were observed. Individuals heterozygous for the Q829X mutation were unaffected.
  
  
  CONCLUSIONS
  The Q829X mutation in the OTOF gene causes severe to profound sensorineural hearing loss of prelingual onset. Early detection of individuals carrying this mutation is important for the application of palliative treatment and special education.
authors.affiliation: Servicio de ORL, Hospital Universitario Marqués de Valdecilla, Santander.
authors.forename: J
authors.initials: J
authors.lastname: Gallo-Terán
authors.forename: R
authors.initials: R
authors.lastname: Megía López
authors.forename: C
authors.initials: C
authors.lastname: Morales-Angulo
authors.forename: I
authors.initials: I
authors.lastname: del Castillo
authors.forename: M A
authors.initials: MA
authors.lastname: Moreno-Pelayo
authors.forename: A
authors.initials: A
authors.lastname: Mazón Gutiérrez
authors.forename: F
authors.initials: F
authors.lastname: Moreno Herrero
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree
chemical_list: D008565:Membrane Proteins; C118457:OTOF protein, human