title: Auditory measurements in parents of individuals with autosomal recessive hearing loss.
abstract: BACKGROUND
  Audiological evaluation of parents of individuals with autosomal recessive hearing loss.
  
  
  OBJECTIVE
  To study the audiological profile of parents of individuals with autosomal recessive hearing loss, inferred by family history or by molecular tests that detected heterozygous mutations in the GJB2 gene. This gene codes Connexin 26.
  
  
  METHODS
  Participants were 36 subjects, ranging between 30 and 60 years, who were divided into two groups: a control group composed by individuals without auditory complaints and without family history of hearing loss, and a research group composed by heterozygous parents of individuals with autosomal recessive hearing loss or heterozygous for connexin 26 mutations. All subjects underwent pure tone audiometry (0.25 to 8 kHz), high frequencies audiometry (9 to 20 kHz) and distortion product otoacoustic emissions (DPOAE).
  
  
  RESULTS
  There were significant differences between the groups when considering the amplitude of DPOAE in the frequencies of 1001 and 1501 Hz. Amplitude was higher in the control group. There was no significant difference between the groups for pure tone thresholds from 0.25 to 20 KHz.
  
  
  CONCLUSIONS
  The DPOAE were more effective, in comparison to the pure tone audiometry, to detect auditory differences between the groups. More studies of this type are necessary to confirm the observed results.
authors.affiliation: Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo. larissa.suyama.silva@usp.br
authors.forename: Larissa Suyama da
authors.initials: LS
authors.lastname: Silva
authors.forename: Regina Célia Mingroni
authors.initials: RC
authors.lastname: Netto
authors.forename: Seisse Gabriela Gandolfi
authors.initials: SG
authors.lastname: Sanches
authors.forename: Renata Mota Mamede
authors.initials: RM
authors.lastname: Carvallo
mesh_terms: D000328:Adult; D001301:Audiometry, Pure-Tone / Q000379:methods*; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006316:Hearing Loss, High-Frequency / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D017084:Otoacoustic Emissions, Spontaneous / Q000502:physiology*; D015203:Reproducibility of Results; D018709:Statistics, Nonparametric
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26