title: Connexin 26 and 30 genes mutations in patients with chronic rhinosinusitis.
abstract: OBJECTIVE
  Connexin proteins play an important role in cell-to-cell communication. Mutations in the genes that encode for these connexins may potentially lead to dysfunction in mucociliary clearance predisposing to chronic rhinosinusitis (CRS) or recurrent acute rhinosinusitis (RARS). The objective of this study was to assess for the presence of connexin 26 and 30 gene mutations in patients with CRS and RARS.
  
  
  METHODS
  Prospective case series.
  
  
  METHODS
  Forty-six consecutive patients who were diagnosed with CRS or RARS at a single tertiary care facility were included in the study. Patients with known dysfunction in mucociliary clearance were excluded. The following clinical data were collected: age, gender, duration of disease and age at onset, personal history of otitis media and/or sensorineural hearing loss (SNHL), and family history of paranasal sinus disease and SNHL. Buccal swab deoxyribonucleic acid (DNA) specimens were sequenced for connexin 26 and 30 genes.
  
  
  RESULTS
  The study group consisted of 32 females and 14 males, 8 children and 38 adults. Adequate sequencing of connexin 30 gene was possible in all 46 specimens, but in only 19 specimens for connexin 26 gene. Connexin 30 gene mutations were not detected in any of the 46 specimens. Two of the 19 specimens had heterozygous mutations in the connexin 26 gene; there was one V371 mutation and one 35dG mutation. Both patients were adults; the patient with 35dG mutation had SNHL.
  
  
  CONCLUSIONS
  Mutations in connexin 26 and 30 genes are rare in patients with CRS or RARS and do not seem to play a contributory role in the pathogensis of these disorders.
authors.affiliation: Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA. nicolas_busaba@meei.harvard.edu
authors.forename: Nicolas Y
authors.initials: NY
authors.lastname: BuSaba
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Cunningham
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002908:Chronic Disease; D000072259:Connexin 26; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D008875:Middle Aged; D009079:Mucociliary Clearance / Q000502:physiology; D017354:Point Mutation / Q000235:genetics*; D011446:Prospective Studies; D012220:Rhinitis / Q000235:genetics* / Q000503:physiopathology; D012852:Sinusitis / Q000235:genetics* / Q000503:physiopathology
chemical_list: D000075302:Connexin 30; D017630:Connexins; C491020:GJB6 protein, human; D000072259:Connexin 26