Connexin 26 and 30 genes mutations in patients with chronic rhinosinusitis

Laryngoscope

Volumn 118, Issue 2, 2008, Pages 310-313

  BuSaba, Nicolas Y ^a,b,c   Cunningham, Michael J ^a,c  

^a MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

^b VA BOSTON HEALTHCARE SYSTEM   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

Author keywords

Chronic rhinosinusitis; Connexin 26 gene; Connexin 30 gene; Gene mutation; Mucociliary clearance; Recurrent acute rhinosinusitis

Indexed keywords

CONNEXIN 26; CONNEXIN 30; GAP JUNCTION PROTEIN; GJB6 PROTEIN, HUMAN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHRONIC DISEASE; CLINICAL ARTICLE; DEMOGRAPHY; DISEASE DURATION; DNA SEQUENCE; FAMILY HISTORY; FEMALE; GENE MUTATION; HUMAN; MALE; MUCOCILIARY CLEARANCE; OTITIS MEDIA; PARANASAL SINUS DISEASE; PERCEPTION DEAFNESS; PRIORITY JOURNAL; RHINOSINUSITIS; SEQUENCE ANALYSIS; THROAT CULTURE; GENE DELETION; GENETICS; MIDDLE AGED; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PHYSIOLOGY; POINT MUTATION; PROSPECTIVE STUDY; RHINITIS; SINUSITIS;

ADOLESCENT; ADULT; CHILD; CHRONIC DISEASE; CONNEXINS; DNA MUTATIONAL ANALYSIS; FEMALE; GENE DELETION; HUMANS; MALE; MIDDLE AGED; MUCOCILIARY CLEARANCE; POINT MUTATION; PROSPECTIVE STUDIES; RHINITIS; SINUSITIS;

EID: 40949146619     PISSN: 0023852X     EISSN: None     Source Type: Journal    
DOI: 10.1097/MLG.0b013e31815744b6     Document Type: Article

References (18)

1. Stammberger H. Endoscopic endonasal sinus surgery - concepts in treatment of recurring rhinosinusitis. part I: anatomic and pathophysiologic considerations. part II. surgical technique. Otolaryngol Head Neck Surg 1986;94:143-56.
2. Kennedy DW, Zinreich SJ, Shaalan H, et al., Endoscopic middle meatal antrostomy: theory, technique and patency. Laryngoscope 1987;97(suppl 43):1-9.
3. Yousem DM, Kennedy DW, Rosenberg S. Ostiomeatal complex risk factors for sinusitis: CT evaluation. J Otolaryngol 1991;20:419-424.
4. Taylor MJ, Ponikau JU, Sherris DA, et al. Detection of fungal organisms in eosinophilic mucin using a fluorescein-labeled chitin-specific binding protein. Otolaryngol Head Neck Surg 2002;127:377-383.
5. Simon HU, Yousefi S, Schranz C, et al. Direct demonstration of delayed eosinophil apoptosis as a mechanism causing tissue eosinophilia. J Immunol 1997;158:3902-3908.
6. Hamilos DL, Leung DY, Huston DP, et al. GM-CSF, IL-5 and RANTES immunoreactivity and mRNA expression in chronic hyperplastic sinusitis with nasal polyposis (NP). Clin Exp Allergy 1998;28:1145-1152.
7. Meltzer EO, Hamilos DL, Hadley JA, et al. American Academy of Allergy, Asthma and Immunology (AAAAI); American Academy of Otolaryngic Allergy (AAOA); American Academy of Otolaryngology-Head Neck Surgery (AAO-HNS); American College of Allergy, Asthma and Immunology (ACAAI); American Rhinologic Society (ARS). Rhinosinusitis: establishing definitions for clinical research and patient care. Otolaryngol Head Neck Surg 2004;131(6 Suppl):S1-62.
8. Kennedy DW. Pathogenesis of chronic rhinosinusitis. Ann Otol Rhinol Laryngol Suppl 2004;193:6-9.
9. Coste A, Girodon E, Louis S, Pruliere-Escabasse V, Goossens M, Peynegre R, Escudier E. Atypical sinusitis in adults must lead to looking for cystic fibrosis and primary ciliary dyskinesia. Laryngoscope 2004;114:839-843.
10. Park HJ, Hahn SH, Chun YM, Park K, Kim HN. Connexin26 mutations associated with nonsyndromic hearing loss. Laryngoscope 2000;110:1535-1538.
11. Jun AI, McGuirt WT, Hinojosa R, Green GE, Fischel-Ghodsian N, Smith RJH. Temporal bone histopathology in Connexin 26-related hearing loss. Laryngoscope 2000;110:269-275.
12. del Castillo I, Villamar M, Moreno-Pelayo MA, del Castillo FJ, Alvarez A, Telleria D, Menendez I, Moreno F. A deletion involving the Connexin 30 Gene in nonsyndromic hearing impairment. N Engl J Med 2002;346:243-249.
13. Zhao HB, Kikuchi T, Ngezahayo A, White TW. Gap junctions and cochlear homeostasis. J Membr Biol 2006;209:177-186.
14. Huculak C, Bruyere H, Nelson TN, Kozak FK, Langlois S V37I connexin 26 allele in patients with sensorineural hearing loss: evidence of its pathogenicity. Am J Med Genet A 2006;140:2394-2400.
15. Neocleous V, Portides G, Anastasiadou V, Phylactou LA. Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Greek Cypriot population. Int J Pediatr Otorhinolaryngol 2006;70:1473-1477.
16. Tang HY, Fang P, Ward PA, et al. DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls. Am J Med Genet A 2006;140:2401-2415.
17. Yeh TH, Hsu WC, Chen YS, Hsu CJ, Lee SY. Decreased connexin 43 expression correlated with eosinophil infiltration in nasal polyps. Am J Rhinol 2005;19:59-64.
18. Yeh TH, Su MC, Hsu CJ, Chen YH, Lee SY. Epithelial cells of nasal mucosa express functional gap junctions of connexin 43. Acta Otolaryngol 2003;123:314-320.