Genetics of cystic fibrosis

Seminars in Respiratory and Critical Care Medicine

Volumn 30, Issue 5, 2009, Pages 531-538

  Lommatzsch, Sherstin T ^a   Aris, Robert ^a  

^a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

Author keywords

Congenital bilateral absence of the vas deferens (CBAVD); Cystic fibrosis transmembrane regulator (CFTR); F508; Idiopathic chronic pancreatitis (ICP); Mutations; Newborn screening (NBS)

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ALLELE; BONE DISEASE; CHROMOSOME; CYSTIC FIBROSIS; DISEASE CLASSIFICATION; DISEASE SEVERITY; ETHNICITY; FOLLOW UP; GASTROINTESTINAL DISEASE; GENE DELETION; GENE MUTATION; GENETIC CODE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; HUMAN; LIVER DISEASE; PANCREAS DISEASE; PHENOTYPE; PRIORITY JOURNAL; REVIEW; RISK ASSESSMENT; UROGENITAL TRACT MALFORMATION; VAS DEFERENS;

CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; GENETIC SCREENING; HUMANS; MALE; MUTATION; PHENOTYPE; SEVERITY OF ILLNESS INDEX; VAS DEFERENS;

EID: 70350452926     PISSN: 10693424     EISSN: 10989048     Source Type: Journal    
DOI: 10.1055/s-0029-1238911     Document Type: Review

References (46)

1. Littlewood J M. History of cystic fibrosis In: Hodson M, Geddes D, Bush A Cystic Fibrosis. London Hodder Arnold 2007 3-19
2. Rosenstein B J., Cutting G R., Cystic Fibrosis Foundation Consensus Panel. The diagnosis of cystic fibrosis: a consensus statement. J Pediatr 1998 132 589-595
3. Knowles M R., Durie P R. What is cystic fibrosis? N Engl J Med 2002 347 439-442
4. Di SantAgnese P A., Darling R C., Perera G A., Shea E. Abnormal electrolyte composition of sweat in cystic fibrosis of the pancreas; clinical significance and relationship to the disease. Pediatrics 1953 12 549-563
5. Cystic Fibrosis Transmembrane Conductance Regulator. CFTR. 1998 http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421 Accessed April 2009
6. Zielenski J. Genotype and phenotype in cystic fibrosis. Respiration 2000 67 117-133
7. Rowe S M., Miller S, Sorscher E J. Cystic fibrosis. N Engl J Med 2005 352 1992-2001 (Pubitemid 40638370)
8. Nissim-Rafinia M, Kerem B, Kerem E. Molecular biology of cystic fibrosis: CFTR processing and functions, and classes of mutations In: Hodson M, Geddes D, Bush A Cystic Fibrosis. 3rd ed. London Hodder Arnold 2007 49-58
9. Welsh M J., Smith A E. Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis. Cell 1993 73 1251-1254
10. Noone P G., Knowles M R. CFTR-opathies: disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations. Respir Res 2001 2 328-332
11. Gabriel S E., Brigman K N., Koller B H., Boucher R C., Stutts M J. Cystic fibrosis heterozygote resistance to cholera toxin in the cystic fibrosis mouse model. Science 1994 266 107-109
12. Hannula K, Lipsanen-Nyman M, Kristo P et al. Genetic screening for maternal uniparental disomy of chromosome 7 in prenatal and postnatal growth retardation of unknown cause. Pediatrics 2002 109 441-448
13. Knowles M RF, Silverman K J., Genetics L M. Diagnosis and clinical phenotype In: Yankaskas JR, Knowles MR Cystic Fibrosis in Adults. Philadelphia Lippincott-Raven 1999 27-42
14. Grebe T A., Seltzer W K., DeMarchi J et al. Genetic analysis of Hispanic individuals with cystic fibrosis. Am J Hum Genet 1994 54 443-446
15. Dankert-Roelse J E., Mrelle M E. Review of outcomes of neonatal screening for cystic fibrosis versus non-screening in Europe. J Pediatr 2005 147 (3, Suppl) S15-S20
16. Cystic Fibrosis Foundation. Newborn Screening. 2008. Available at http://www.cff.org/AboutCF/Testing/NewbornScreening/
17. Farrell P M., Rosenstein B J., White T B. et al, Cystic Fibrosis Foundation. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. J Pediatr 2008 153 S4-S14
18. Comeau A M., Accurso F J., White T B. et al, Cystic Fibrosis Foundation. Guidelines for implementation of cystic fibrosis newborn screening programs: Cystic Fibrosis Foundation workshop report. Pediatrics 2007 119 e495-e518
19. Rusakow L SAS, Sokol R J., Seltzer W, Hammond K, Accurso R J. Immunoreactive trypsinogen levels in infants with cystic fibrosis complicated by meconium ileus. Screening 1993 2 13-17
20. Wilcken B, Wiley V, Sherry G, Bayliss U. Neonatal screening for cystic fibrosis: a comparison of two strategies for case detection in 1.2 million babies. J Pediatr 1995 127 965-970
21. Narzi L, Lucarelli M, Lelli A et al. Comparison of two different protocols of neonatal screening for cystic fibrosis. Clin Genet 2002 62 245-249
22. Cystic Fibrosis Mutation Database. Available at: http://www.genet. sickkids.on.ca/cftr/app
23. Watson M S., Cutting G R., Desnick R J. et al. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med 2004 6 387-391
24. LeGrys V A., Yankaskas J R., Quittell L M., Marshall B C., Mogayzel P J. Jr, Cystic Fibrosis Foundation. Diagnostic sweat testing: the Cystic Fibrosis Foundation guidelines. J Pediatr 2007 151 85-89
25. Serohijos A WRH, Hegedus T, Aleksandrov A A. et al. Phenylalanine-508 mediates a cytoplasmic-membrane domain contact in the CFTR 3D structure crucial to assembly and channel function. Proc Natl Acad Sci U S A 2008 105 3256-3261
26. Fulmer S B., Schwiebert E M., Morales M M., Guggino W B., Cutting G R. Two cystic fibrosis transmembrane conductance regulator mutations have different effects on both pulmonary phenotype and regulation of outwardly rectified chloride currents. Proc Natl Acad Sci U S A 1995 92 6832-6836
27. McNicholas C M., Guggino W B., Schwiebert E M., Hebert S C., Giebisch G, Egan M E. Sensitivity of a renal K+ channel (ROMK2) to the inhibitory sulfonylurea compound glibenclamide is enhanced by coexpression with the ATP-binding cassette transporter cystic fibrosis transmembrane regulator. Proc Natl Acad Sci U S A 1996 93 8083-8088
28. Akabas M H., Kaufmann C, Cook T A., Archdeacon P. Amino acid residues lining the chloride channel of the cystic fibrosis transmembrane conductance regulator. J Biol Chem 1994 269 14865-14868
29. Nissim-Rafinia M KB, Kerem B. Splicing regulation as a potential genetic modifier. Trends Genet 2002 18 123-127
30. Nissim-Rafinia M, Aviram M, Randell S H. et al. Restoration of the cystic fibrosis transmembrane conductance regulator function by splicing modulation. EMBO Rep 2004 5 1071-1077
31. Haardt M, Benharouga M, Lechardeur D, Kartner N, Lukacs G L. C-terminal truncations destabilize the cystic fibrosis transmembrane conductance regulator without impairing its biogenesis: a novel class of mutation. J Biol Chem 1999 274 21873-21877
32. Chilln 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 1995 332 1475-1480
33. Wilschanski M, Rivlin J, Cohen S et al. Clinical and genetic risk factors for cystic fibrosisrelated liver disease. Pediatrics 1999 103 52-57
34. Sharer N, Schwarz M, Malone G et al. Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. N Engl J Med 1998 339 645-652
35. Wilschanski M, Durie P R. Patterns of GI disease in adulthood associated with mutations in the CFTR gene. Gut 2007 56 1153-1163
36. Noone P G., Zhou Z, Silverman L M., Jowell P S., Knowles M R., Cohn J A. Cystic fibrosis gene mutations and pancreatitis risk: relation to epithelial ion transport and trypsin inhibitor gene mutations. Gastroenterology 2001 121 1310-1319
37. Cohn J A., Neoptolemos J P., Feng J et al. Increased risk of idiopathic chronic pancreatitis in cystic fibrosis carriers. Hum Mutat 2005 26 303-307
38. Cohn J A., Friedman K J., Noone P G., Knowles M R., Silverman L M., Jowell P S. Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis. N Engl J Med 1998 339 653-658
39. Cohn J A. Reduced CFTR function and the pathobiology of idiopathic pancreatitis. J Clin Gastroenterol 2005 39 (4, Suppl 2) S70-S77
40. Friedman K J., Ling S C., Lange E M. et al. Genetic modifiers of severe liver disease in cystic fibrosis. Pediatr Pulmonol 2005 40 (Suppl 28) 247 abstract 170
41. Taulan M, Girardet A, Guittard C et al. Large genomic rearrangements in the CFTR gene contribute to CBAVD. BMC Med Genet 2007 8 22
42. Ratbi I, Legendre M, Niel F et al. Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling. Hum Reprod 2007 22 1285-1291
43. The Cystic Fibrosis Genotype-Phenotype Consortium. Correlation between genotype and phenotype in patients with cystic fibrosis. N Engl J Med 1993 329 1308-1313
44. Timmreck L S., Gray M R., Handelin B et al. Analysis of cystic fibrosis transmembrane conductance regulator gene mutations in patients with congenital absence of the uterus and vagina. Am J Med Genet A 2003 120A 72-76
45. Radpour R, Gourabi H, Dizaj A V., Holzgreve W, Zhong X Y. Genetic investigations of CFTR mutations in congenital absence of vas deferens, uterus, and vagina as a cause of infertility. J Androl 2008 29 506-513
46. King S J., Topliss D J., Kotsimbos T et al. Reduced bone density in cystic fibrosis: DeltaF508 mutation is an independent risk factor. Eur Respir J 2005 25 54-61