title: GJB2 sequencing in deaf and profound sensorineural hearing loss children.
abstract: BACKGROUND
  GJB2 mutations are the most frequent reason of genetic congenital hearing loss. The aim of the study was to assess the prevalence of GJB2 mutations in the deaf and profound hearing loss children.
  
  
  METHODS
  The material of the study was a group of 61 patients divided into two groups. Group I - 35 deaf or with profound sensorineural hearing loss children (the pupils of the deaf and hard of hearing school), aged 5-17 years (average 9.2 years), 14 males, 21 females, II - control group comprised 26 normal hearing patients, aged 5-16 years (average 10.4years), 14 males, 12 females (patients of Department of Pediatric Otolaryngology, Audiology and Phoniatrics, Medical University of Lodz). In both groups, exon 2 sequencing of GJB2 gene was performed.
  
  
  RESULTS
  In group I in 6 patients (17%) 35delG in GJB2 gene was found. The patients were homozygotes, with negative family history of hearing loss. No other mutations in GJB2 gene were found. In group II no mutations in GJB2 were observed.
  
  
  CONCLUSIONS
  The most frequent cause of hearing impairment in the deaf and profound sensorineural hearing loss children was 35delG mutation in GJB2 gene. No other mutations in GJB2 gene were detected.
authors.affiliation: Medical University of Lodz.
authors.forename: Marzena
authors.initials: M
authors.lastname: Mielczarek
authors.affiliation: Medical University of Lodz.
authors.forename: Anna
authors.initials: A
authors.lastname: Zakrzewska
authors.affiliation: Medical University of Lodz.
authors.forename: Jurek
authors.initials: J
authors.lastname: Olszewski
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D000072259:Connexin 26 / Q000235:genetics*; D003638:Deafness / Q000151:congenital* / Q000235:genetics*; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000151:congenital* / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D011044:Poland
chemical_list: D000072259:Connexin 26