title: Evaluation of the presence of the 35delG mutation in patients with severe to profound hearing loss based on ethnicity.
abstract: BACKGROUND
  The 35delG mutation in the connexin 26 gene is the most common mutation that generates deafness, but its frequency in different countries is strongly based on its ethnicity. Brazilians belong to different ethnic groups.
  
  
  OBJECTIVE
  To report the frequency of homo and heterozygosis 35delG mutation in a population with severe to profound bilateral sensorineural deafness, and separate them by ethnicity.
  
  
  METHODS
  100 individuals were studied with severe to profound hearing loss, with no other etiology found, and tested for 35delG mutation. The group presented the following ethnicity distribution: 25% Blacks; 30% Latin Europeans; 26.2% Blacks/Latin Europeans and 2.3% native.
  
  
  RESULTS
  The 35delG mutation was found in 20% of patients: 15% were heterozygous and 5% homozygous. All homozygous were of Latin European origin.
  
  
  CONCLUSIONS
  Ethnicity shows marked determination of the presence of the 35delG mutation, and it was only found in homozygosis in the group of Latin Europeans.
authors.forename: F
authors.initials: F
authors.lastname: Felix
authors.forename: M G
authors.initials: MG
authors.lastname: Zallis
authors.forename: S
authors.initials: S
authors.lastname: Tomita
authors.forename: M M
authors.initials: MM
authors.lastname: Baptista
authors.forename: M G
authors.initials: MG
authors.lastname: Ribeiro
mesh_terms: D000293:Adolescent; D015415:Biomarkers / Q000378:metabolism; D044383:Black People / Q000706:statistics & numerical data*; D001938:Brazil / Q000208:ethnology; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003241:Consanguinity; D003430:Cross-Sectional Studies; D005260:Female; D017353:Gene Deletion; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000208:ethnology* / Q000235:genetics*; D006579:Heterozygote; D006630:Hispanic or Latino / Q000706:statistics & numerical data*; D006720:Homozygote; D006801:Humans; D008297:Male; D044382:Population Groups / Q000706:statistics & numerical data; D011237:Predictive Value of Tests; D018570:Risk Assessment; D012307:Risk Factors; D012680:Sensitivity and Specificity; D012720:Severity of Illness Index; D044465:White People / Q000706:statistics & numerical data*
chemical_list: D015415:Biomarkers; D017630:Connexins; D000072259:Connexin 26