title: Connexin 32 and 43 mutations: do they play a role in chronic rhinosinusitis?
abstract: OBJECTIVE
  Dysfunction of the sinonasal epithelium may contribute to the pathogenesis of chronic rhinosinusitis (CRS) including recurrent acute rhinosinusitis (RARS). Mutations in connexin 32 and 43 proteins have been associated with a number of human diseases. The objective of this study is to investigate the role of mutations in connexin 32 or connexin 43 genes in CRS and RARS.
  
  
  METHODS
  Prospective case series of 19 patients with CRS and /or RARS. Clinical and demographic factors were noted and buccal swabs were collected for DNA sequencing of connexin 32 and connexin 43 genes.
  
  
  RESULTS
  One patient was found to have a conservative V193I mutation in the connexin 32 gene. Connexin 43 mutations were found in two patients - a silent R239R mutation and an AAA insertion after the stop codon in the 3' UTR. None of these mutations are associated with any known diseases or predicted to lead to protein dysfunction.
  
  
  CONCLUSIONS
  Mutations in connexin 32 or 43 genes in patients with CRS, including RARS, appear to be rare. The etiologic role of connexin mutations in chromic rhinosinusitis is suspect, and routine sequencing for connexin mutations in patients with RARS or CRS is not cost effective.
authors.affiliation: Department of Otolaryngology - Head and Neck Surgery, Massachusetts Eye and Ear Infirmary, Boston, MA, USA; Department of Otology and Laryngology, Harvard Medical School, Boston, MA, USA.
authors.forename: Ahmad R
authors.initials: AR
authors.lastname: Sedaghat
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Cunningham
authors.forename: Nicholas Y
authors.initials: NY
authors.lastname: Busaba
mesh_terms: D000208:Acute Disease; D000293:Adolescent; D002648:Child; D002908:Chronic Disease; D018031:Connexin 43 / Q000235:genetics*; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D009079:Mucociliary Clearance / Q000502:physiology; D010865:Pilot Projects; D017354:Point Mutation / Q000235:genetics*; D011446:Prospective Studies; D012008:Recurrence; D012220:Rhinitis / Q000235:genetics* / Q000276:immunology; D012852:Sinusitis / Q000235:genetics* / Q000276:immunology; D055815:Young Adult; D000097002:Gap Junction beta-1 Protein
chemical_list: D018031:Connexin 43; D017630:Connexins; D000097002:Gap Junction beta-1 Protein; C500216:GJA1 protein, human