Genetic Counselling Issues in Cystic Fibrosis

Paediatric Respiratory Reviews

Volumn 11, Issue 2, 2010, Pages 75-79

  Culling, Bronwyn ^a   Ogle, Robert ^a  

^a ROYAL PRINCE ALFRED HOSPITAL   (Australia)

Author keywords

Classification of CFTR mutations; Cystic fibrosis; Genetic counselling; Newborn screening; Prenatal diagnosis

Indexed keywords

MANNOSE BINDING LECTIN 2; TRANSFORMING GROWTH FACTOR BETA1; TRANSMEMBRANE CONDUCTANCE REGULATOR;

CYSTIC FIBROSIS; EARLY DIAGNOSIS; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC COUNSELING; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; INDEL MUTATION; MASS SCREENING; MISSENSE MUTATION; NEWBORN SCREENING; NONSENSE MUTATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REVIEW;

CYSTIC FIBROSIS; GENETIC COUNSELING; GENETIC TESTING; GENOTYPE; HUMANS; INFANT, NEWBORN; MASS SCREENING; MUTATION; NEONATAL SCREENING; PHENOTYPE; PRENATAL DIAGNOSIS;

EID: 77952242414     PISSN: 15260542     EISSN: 15260550     Source Type: Journal    
DOI: 10.1016/j.prrv.2010.01.001     Document Type: Review

References (45)

1. Riordan J.R., Rommens J.M., Kerem B., et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989, 245:1066-1073.
2. Rommens J.M., Iannuzzi M.C., Kerem B., et al. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 1989, 245:1059-1065.
3. Zielenski J., Rozmahel R., Bozon D., et al. Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 1991, 10:214-228.
4. Zielenski J. Genotype and phenotype in cystic fibrosis. Respiration 2000, 67:117-133.
5. Sheppard D.N., Welsh M.J. Structure and function of the CFTR chloride channel. Physiol Rev 1999, 79:S23-45.
6. Zielenski J., Tsui L.C. Cystic fibrosis: genotypic and phenotypic variations. Annu Rev Genet 1995, 29:777-807.
7. Fujiwara T.M., Morgan K., Schwartz R.H., et al. Genealogical analysis of cystic fibrosis families and chromosome 7q RFLP haplotypes in the Hutterite Brethren. Am J Hum Genet 1989, 44:327-337.
8. Super M. Cystic fibrosis in the South West African Afrikaner. An example of population drift, possibly with heterozygote advantage. S Afr Med J 1975, 49:818-820.
9. Rozen R., Schwartz R.H., Hilman B.C., et al. Cystic fibrosis mutations in North American populations of French ancestry: analysis of Quebec French-Canadian and Louisiana Acadian families. Am J Hum Genet 1990, 47:606-610.
10. Le Caignec C., Isidor B., de Pontbriand U., et al. Third case of paternal isodisomy for chromosome 7 with cystic fibrosis: a new patient presenting with normal growth. Am J Med Genet A 2007, 143A:2696-2699.
11. Hehr U., Dorr S., Hagemann M., Hansmann I., Preiss U., Bromme S. Silver-Russell syndrome and cystic fibrosis associated with maternal uniparental disomy 7. Am J Med Genet 2000, 91:237-239.
12. Bobadilla J.L., Macek M.J., Fine J.P., Farrell P.M. Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening. Hum Mutat 2002, 19:575-606.
13. Kerem B., Rommens J.M., Buchanan J.A., et al. Identification of the cystic fibrosis gene: genetic analysis. Science 1989, 245:1073-1080.
14. Zielenski J., Fujiwara T.M., Markiewicz D., et al. Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population. Am J Hum Genet 1993, 52:609-615.
15. Shoshani T., Augarten A., Gazit E., et al. Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease. Am J Hum Genet 1992, 50:222-228.
16. Cremonesi L., Cainarca S., Rossi A., Padoan R., Ferrari M. Detection of a de novo R1066H mutation in an Italian patient affected by cystic fibrosis. Hum Genet 1996, 98:119-121.
17. Tsui L.C. The spectrum of cystic fibrosis mutations. Trends Genet 1992, 8:392-398.
18. Welsh M.J., Smith A.E. Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis. Cell 1993, 73:1251-1254.
19. Castellani C., Cuppens H., Macek M.J., et al. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibros 2008, 7:179-196.
20. Dequeker E., Stuhrmann M., Morris M.A., et al. Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations. Eur J Hum Genet 2009, 17:51-65.
21. Kerem B., Kerem E. Genotype-phenotype correlations in cystic fibrosis. Pediatr Pulmonol 1996, 22:387-395.
22. McKone E.F., Emerson S.S., Edwards K.L., Aitken M.L. Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study. Lancet 2003, 361:1671-1676.
23. McKone E.F., Goss C.H., Aitkin M.L. CFTR genotype as a predictor of prognosis in cystic fibrosis. Chest 2006, 130:1441-1447.
24. The Cystic Fibrosis Genotype-Phenotype Consortium. Correlation between genotype and phenotype in patients with cystic fibrosis. N Engl J Med 1993; 329:1308-13.
25. Kristidis P., Bozon D., Corey M., et al. Genetic determination of exocrine pancreatic function in cystic fibrosis. Am J Hum Genet 1992, 50:1178-1184.
26. Koch C., Cuppens H., Rainisio M., et al. European Epidemiologic Registry of Cystic Fibrosis (ERCF): comparison of major disease manifestations between patients with different classes of mutations. Pediatr Pulmonol 2001, 31:1-12.
27. Cipolli M., Castellani C., Wilcken B., et al. Pancreatic phenotype in infants with cystic fibrosis identified by mutation screening. Arch Dis Child 2007, 92:842-846.
28. Kaplan E., Schwachman H., Perlmutter A.D., Rule A., Khaw K.T., Holsclaw D.S. Reproductive failure in males with cystic fibrosis. N Engl J Med 1968, 279:65-69.
29. Drumm M.L., Konstan M.W., Schluchter M.D., et al. Genetic modifiers of lung disease in cystic fibrosis. N Engl J Med 2005, 353:1443-1453.
30. Garred P., Pressler T., Madsen H.O., et al. Association of mannose-binding lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis. J Clin Invest 1999, 104:431-437.
31. Moskowitz S.M., Chmiel J.F., Sternen D.L., et al. Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders. Genet Med 2008, 10:851-868.
32. Paracchini V., Seia M., Coviello D., et al. Molecular and clinical features associated with CFTR gene rearrangements in Italian population: identification of a new duplication and recurrent deletions. Clin Genet 2008, 73:346-352.
33. Alibakhshi R., Kianishirazi R., Cassiman J.J., Zamani M., Cuppens H. Analysis of the CFTR gene in Iranian cystic fibrosis patients: identification of eight novel mutations. J Cyst Fibros 2008, 7:102-109.
34. Audrezet M.P., Chen J.M., Raguenes O., et al. Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms. Hum Mutat 2004, 23:343-357.
35. Hantash F.M., Redman J.B., Starn K., et al. Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening. Hum Genet 2006, 119:126-136.
36. McGinniss M.J., Chen C., Redman J.B., et al. Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples. Hum Genet 2005, 118:331-338.
37. Crossley J.R., Elliott R.B., Smith P.A. Dried -blood spot screening for cystic fibrosis in the newborn. Lancet. 1979, 313:472-474.
38. Sahai I., Marsden D. Newborn screening. Crit Rev Clin Lab Sci 2009, 46:55-82.
39. Morris J.K., Law M.R., Wald N.J. Is cascade testing a sensible method of screening a population for autosomal recessive disorders?. Am J Med Genet A 2004, 128A:271-275.
40. Langerfelder Schwind E., Kloza E., Sugarman E., et al. Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors. J Genet Couns 2005, 14:1-15.
41. Brice P., Jarrett J., Mugford M. Genetic screening for cystic fibrosis: An overview of the science and the economics. J Cyst Fibros 2007, 6:255-261.
42. de Boer K.A., Catt J.W., Jansen R.P.S., Leigh D., McArthur S. Moving to blastocyst biopsy for preimplantation genetic diagnosis and single embryo transfer at Sydney IVF. Fertil Steril. 2004, 82:295-298.
43. Braude P., Pickering S., Flinter F., Mackie Ogilvie C. Preimplantation genetic diagnosis. Nat Rev Genet 2002, 3:941-953.
44. Resta R., Biesecker B.B., Bennett R.L., et al. A new definition of Genetic Counseling: The National Society of Genetic Counselors' Task Force Report. J Genet Couns 2006, 15:77-83.
45. Shulman L.P. Cystic fibrosis screening. J Midwifery Womens Health 2005, 50:205-210.