title: Screening of GJB6 gene large deletions among Syrians with congenital hearing impairment.
abstract: BACKGROUND
  Research into the genetics of congenital hearing impairment in the Syrian population, where cases are noticeably encountered, is still in its infancy.
  
  
  OBJECTIVE
  Our goal was to estimate the frequencies of the del(GJB6-D13S1830) and del(GJB6-D13S1854) mutations in a group of Syrians with autosomal recessive nonsyndromic hearing loss (ARNSHL).
  
  
  METHODS
  Forty-one unrelated Syrian probands, already screened for exon 2, GJB2 gene mutations, were reanalyzed for del(GJB6-D13S1830) and del(GJB6-D13S1854) mutations by polymerase chain reaction.
  
  
  RESULTS
  The del(GJB6-D13S1830) mutation was only found in homozygosity in 1 of 41 probands (2.43%), while the del(GJB6-D13S1854) mutation was not detected in any of the enrolled patients. Coexistence of GJB2 and GJB6 mutations was not encountered in any case.
  
  
  CONCLUSIONS
  Our study reports the first case in Syria with the del(GJB6-D13S1830) mutation. This mutation might be considered in the diagnosis and genetic counseling of inherited hearing impairment in the Syrian population.
authors.affiliation: 1 Department of Biochemistry and Microbiology, Faculty of Pharmacy, Damascus University , Damascus, Syria .
authors.forename: Tarek
authors.initials: T
authors.lastname: Zaidieh
authors.affiliation: 2 Clinical Laboratories Department, Al-Assad Hospital, Damascus University , Damascus, Syria .
authors.forename: Wafa
authors.initials: W
authors.lastname: Habbal
authors.affiliation: 1 Department of Biochemistry and Microbiology, Faculty of Pharmacy, Damascus University , Damascus, Syria .|2 Clinical Laboratories Department, Al-Assad Hospital, Damascus University , Damascus, Syria .
authors.forename: Fawza
authors.initials: F
authors.lastname: Monem
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D000072259:Connexin 26; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics*; D005091:Exons; D005260:Female; D005787:Gene Frequency; D005820:Genetic Testing; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion; D013593:Syria; D055815:Young Adult
chemical_list: D000075302:Connexin 30; D017630:Connexins; C000607042:GJB2 protein, human; C491020:GJB6 protein, human; D000072259:Connexin 26