title: Correlation between audiometric data and the 35delG mutation in ten patients.
abstract: Mutations in the connexin 26 gene seem to be extremely common in non-syndromic hereditary deafness genesis, especially the 35delG, but there are still only a few studies that describe the audiometric characteristics of patients with these mutations.
  
  
  OBJECTIVE
  to analyze the audiometric characteristics of patients with mutations in the connexin 26 gene in order to outline genotype-phenotype correlation.
  
  
  METHODS
  Tonal audiometries of 33 index cases of non-syndromic sensorineural hearing loss were evaluated and eight affected relatives. Specific molecular tests were carried out to analyze mutations in the connexin 26 gene.
  
  
  METHODS
  Retrospective, cross-sectional study.
  
  
  RESULTS
  A 27.3% prevalence of mutation 35delG was found in the index cases and 12.5% among the relatives affected. In relation to hearing loss degree, 41.5% of the patients were found with profound hearing loss, 39% with severe HL and 19.5% with moderate HL with homozygote and heterozygote patients for the 35delG predominating in the severe-moderate hearing losses.
  
  
  CONCLUSIONS
  Our results suggest that the audiometric data associated with the molecular diagnose of hearing loss helped us to outline a genotype-phenotype correlation in ten patients with 35delG mutation. However, it is still necessary to run multicentric studies to verify the real phenotypic expression in the Brazilian population, as far as the 35delG mutation is concerned.
authors.affiliation: PhD, Adjunct Professor - Department of Otorhinolaryngology / Head and Neck Surgery - FAMERP.
authors.forename: Vânia
authors.initials: V
authors.lastname: Belintani Piatto
authors.affiliation: 5th Year Medical Student - FAMERP.
authors.forename: Otávio Augusto
authors.initials: OA
authors.lastname: Vasques Moreira
authors.affiliation: M.Sc. Head of the Speech and Hearing Therapy Division - Department of Otorhinolaryngology / Head and Neck Surgery - FAMERP.
authors.forename: Magali Aparecida
authors.initials: MA
authors.lastname: Orate Menezes da Silva
authors.affiliation: Associate Professor - Head of the Department of Otorhinolaryngology / Head and Neck Surgery - FAMERP.
authors.forename: José
authors.initials: J
authors.lastname: Victor Maniglia
authors.affiliation: M.Sc. Department of Otorhinolaryngology / Head and Neck Surgery - FAMERP.
authors.forename: Márcio
authors.initials: M
authors.lastname: Coimbra Pereira
authors.affiliation: PhD. Head of the Center for Molecular Biology and Genetic Engineering - CBMEG-UNICAMP; Faculdade de Medicina de São José do Rio Preto, SP - FAMERP.
authors.forename: Edi Lúcia
authors.initials: EL
authors.lastname: Sartorato
mesh_terms: D000293:Adolescent; D000328:Adult; D001299:Audiometry; D002648:Child; D002675:Child, Preschool; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003430:Cross-Sectional Studies; D005260:Female; D005838:Genotype; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D012189:Retrospective Studies; D012720:Severity of Illness Index
chemical_list: D017630:Connexins; D000072259:Connexin 26