The delta F508 mutation in cystic fibrosis and impact on sinus development

American Journal of Rhinology

Volumn 21, Issue 1, 2007, Pages 122-127

  Woodworth, Bradford A ^a   Ahn, Chadwick ^a   Flume, Patrick A ^b   Schlosser, Rodney J ^a  

^a MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

^b MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

Author keywords

Aplastic; Chronic sinusitis; Computed tomography; CT; Cystic fibrosis; Delta F508; Homozygote; Maxillary; Mutation; Rhinosinusitis; Sinus development; Sinus hypoplaisa; Sphenoid

Indexed keywords

DELTA F508 PROTEIN; GENE PRODUCT; UNCLASSIFIED DRUG;

ADULT; CLINICAL ARTICLE; CONTROLLED STUDY; CYSTIC FIBROSIS; FEMALE; FRONTAL SINUS; GENE MUTATION; GENETIC SCREENING; HOMOZYGOSITY; HUMAN; HYPOPLASIA; INCIDENCE; MALE; MAXILLARY SINUS; PATHOPHYSIOLOGY; PHENOTYPE; POSTOPERATIVE PERIOD; RESPIRATORY TRACT MALFORMATION; RETROSPECTIVE STUDY; REVIEW; SPHENOID SINUS; SWEAT TEST;

ADOLESCENT; ADULT; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FEMALE; FOLLOW-UP STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; MUTATION; PARANASAL SINUS DISEASES; PARANASAL SINUSES; PHENOTYPE; PROGNOSIS; RETROSPECTIVE STUDIES; TOMOGRAPHY, X-RAY COMPUTED;

EID: 33846908123     PISSN: 10506586     EISSN: None     Source Type: Journal    
DOI: 10.2500/ajr.2007.21.2905     Document Type: Review

References (24)

1. Ramsey BW. Management of pulmonary disease in patients with cystic fibrosis. N Engl J Med 335:179-188, 1996.
2. Sloane AJ, Lindner RA, Prasad SS, et al. Proteomic analysis of sputum from adults and children with cystic fibrosis and from control subjects. Am J Respir Crit Care Med 172:1416-1426, 2005.
3. Kim HJ, Friedman EM, Suleck M, et al. Paranasal sinus development in chronic sinusitis, cystic fibrosis, and normal comparison population: A computerized tomography correlation study. Am J Rhinol 11:275-281, 1997.
4. Eggesbo HB, Sovik S, Dolvik S, et al. Proposal of a CT scoring system of the paranasal sinuses in diagnosing cystic fibrosis. Eur Radiol 13:1451-1460, 2003. (Epub April 5, 2003.)
5. Eggesbo HB, Sovik S, Dolvik S, and Kolmannskog F. CT characterization of inflammatory paranasal sinus disease in cystic fibrosis. Acta Radiol 43:21-28, 2002.
6. Eggesbo HB, Dolvik S, Stiris M, et al. Complementary role of MR imaging of ethmomaxillary sinus disease depicted at CT in cystic fibrosis. Acta Radiol 42:144-150, 2001.
7. Eggesbo HB, Sovik S, Dolvik S, et al. CT characterization of developmental variations of the paranasal sinuses in cystic fibrosis. Acta Radiol 42:482-493, 2001.
8. Krzeski A, Kapiszewska-Dzedzej D, Jakubczyk I, et al. Extent of pathological changes in the paranasal sinuses of patients with cystic fibrosis: CT analysis. Am J Rhinol 15: 207-210, 2001.
9. Eggesbo HB, Eken T, Eiklid K, and Kolmannskog F. Hypoplasia of the sphenoid sinuses as a diagnostic tool in cystic fibrosis. Acta Radiol 40:479-485, 1999.
10. Brihaye P, Clement PA, Dab I, and Desprechin B. Pathological changes of the lateral nasal wall in patients with cystic fibrosis (mucoviscidosis). Int J Pediatr Otorhinolaryngol 28: 141-147, 1994.
11. Lester LA, Kraut J, Lloyd-Still J, et al. Delta-F508 genotype does not predict disease severity in an ethnically diverse cystic fibrosis population. Pediatrics 93:114-118, 1994.
12. King SJ, Topliss DJ, Kotsimbos T, et al. Reduced bone density in cystic fibrosis: DeltaF508 mutation is an independent risk factor. Eur Respir J 25:54-61, 2005.
13. Maselli JH, Sontag MK, Norris JM, et al. Risk factors for initial acquisition of Pseudomonas aeruginosa in children with cystic fibrosis identified by newborn screening. Pediatr Pulmonol 35:257-262, 2003.
14. Cuyler JP, and Monaghan AJ. Cystic fibrosis and sinusitis. J Otolaryngol 18:173-175, 1989.
15. Nishioka GJ, Cook PR, McKinsey JP, and Rodriguez FJ. Paranasal sinus computed tomography scan findings in patients with cystic fibrosis. Otolaryngol Head Neck Surg 114: 394-399, 1996.
16. April MM, Zinreich SJ, Baroody FM, and Naclerio RM. Coronal CT scan abnormalities in children with chronic sinusitis. Laryngoscope 103:985-990, 1993.
17. Kerem B, Rommens JM, Buchanan JA, et al. Identification of the cystic fibrosis gene: Genetic analysis. Science. 245:1073-1080, 1989.
18. Riordan JR, Rommens JM, Kerem B, et al. Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA. Science 245:1066-1073, 1989.
19. Gaucher EA, De Kee DW, and Benner SA. Application of DETECTER, an evolutionary genomic tool to analyze genetic variation, to the cystic fibrosis gene family. BMC Genomics 7:44, 2006. (Published online before print March 7, 2006.)
20. Hull J, and Thomson AH. Contribution of genetic factors other than CFTR to disease severity in cystic fibrosis. Thorax 53:1018-1021, 1998.
21. Chillon M, Casals T, Mercier B, et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med 332:1475-1480, 1995.
22. Borgo G, Gasparini P, Bonizzato A, et al. Cystic fibrosis: The delta F508 mutation does not lead to an exceptionally severe phenotype. A cohort study. Eur J Pediatr 152:1006-1011, 1993.
23. Miller PW, Hamosh A, Macek M Jr, et al. Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in allergic bronchopulmonary aspergillosis. Am J Hum Genet 59:45-51, 1996.
24. Gomez Lira M, Benetazzo MG, Marzari MG, et al. High frequency of cystic fibrosis transmembrane regulator mutation L997F in patients with recurrent idiopathic pancreatitis and in newborns with hypertrypsinemia. Am J Hum Genet 66:2013-2014, 2000.