CFTR mutation analysis and haplotype associations in CF patients

Molecular Genetics and Metabolism

Volumn 105, Issue 2, 2012, Pages 249-254

  Cordovado, S K ^a   Hendrix, M ^a   Greene, C N ^a   Mochal, S ^a   Earley, M C ^a   Farrell, P M ^b   Kharrazi, M ^c   Hannon, W H ^a   Mueller, P W ^a  

^a CENTERS FOR DISEASE CONTROL AND PREVENTION   (United States)

^b UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

^c CALIFORNIA DEPARTMENT OF PUBLIC HEALTH   (United States)

Author keywords

CFTR; Cystic fibrosis; Haplotype; Mutation; Newborn screening

Indexed keywords

ASPARAGINE; GLYCINE; TRANSMEMBRANE CONDUCTANCE REGULATOR;

3' UNTRANSLATED REGION; ARTICLE; CHROMOSOME ANALYSIS; CHROMOSOME IDENTIFICATION; CYSTIC FIBROSIS; DNA SEQUENCE; EUROPE; GENE DELETION; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; HAPLOTYPE; HEALTH CARE QUALITY; HEALTH PROGRAM; HUMAN; INTRON; MAJOR CLINICAL STUDY; NEWBORN SCREENING; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN FUNCTION; QUALITY CONTROL;

ADOLESCENT; ADULT; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA MUTATIONAL ANALYSIS; DRIED BLOOD SPOT TESTING; FEMALE; GENETIC TESTING; HAPLOTYPES; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; MICROSATELLITE REPEATS; POPULATION; REFERENCE STANDARDS; UNITED STATES;

EID: 84856110170     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.10.013     Document Type: Article

References (36)

1. Rock M.J. Newborn screening for cystic fibrosis. Clin. Chest Med. 2007, 28:297-305.
2. Welsh M.J., Ramsey B.W., Accurso F.J., Cutting G.R. Cystic fibrosis. The Metabolic and Molecular Bases of Inherited Disease 2001, 5121-5188. McGraw-Hill, New York. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
3. Pratt V.M., Caggana M., Bridges C., Buller A.M., DiAntonio L., Highsmith W.E., Holtegaard L.M., Muralidharan K., Rohlfs E.M., Tarleton J., Toji L., Barker S.D., Kalman L.V. Development of genomic reference materials for cystic fibrosis genetic testing. J. Mol. Diagn. 2009, 11:186-193.
4. Tsui L. Cystic Fibrosis Mutation Database. Cystic Fibrosis Centre at the Hospital for Sick Children in Toronto 2010.
5. Crossley J.R., Elliott R.B., Smith P.A. Dried-blood spot screening for cystic fibrosis in the newborn. Lancet 1979, 1:472-474.
6. Hammond K.B., Abman S.H., Sokol R.J., Accurso F.J. Efficacy of statewide neonatal screening for cystic fibrosis by assay of trypsinogen concentrations. N. Engl. J. Med. 1991, 325:769-774.
7. Comeau A.M., Parad R.B., Dorkin H.L., Dovey M., Gerstle R., Haver K., Lapey A., O'Sullivan B.P., Waltz D.A., Zwerdling R.G., Eaton R.B. Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections. Pediatrics 2004, 113:1573-1581.
8. Gregg R.G., Wilfond B.S., Farrell P.M., Laxova A., Hassemer D., Mischler E.H. Application of DNA analysis in a population-screening program for neonatal diagnosis of cystic fibrosis (CF): comparison of screening protocols. Am. J. Hum. Genet. 1993, 52:616-626.
9. Grosse S.D., Boyle C.A., Botkin J.R., Comeau A.M., Kharrazi M., Rosenfeld M., Wilfond B.S. Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs. MMWR Recomm Rep 2004, 53:1-36.
10. Li L., Zhou Y., Bell C.J., Earley M.C., Hannon W.H., Mei J.V. Development and characterization of dried blood spot materials for the measurement of immunoreactive trypsinogen. J. Med. Screen. 2006, 13:79-84.
11. Earley M.C., Laxova A., Farrell P.M., Driscoll-Dunn R., Cordovado S., Mogayzel P.J., Konstan M.W., Hannon W.H. Implementation of the first worldwide quality assurance program for cystic fibrosis multiple mutation detection in population-based screening. Clin. Chim. Acta 2011, 412:1376-1381.
12. NNSGRC, National Newborn Screening and Genetics Resource Center, Austin.
13. Grody W.W., Cutting G.R., Klinger K.W., Richards C.S., Watson M.S., Desnick R.J. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet. Med. 2001, 3:149-154.
14. Watson M.S., Cutting G.R., Desnick R.J., Driscoll D.A., Klinger K., Mennuti M., Palomaki G.E., Popovich B.W., Pratt V.M., Rohlfs E.M., Strom C.M., Richards C.S., Witt D.R., Grody W.W. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet. Med. 2004, 6:387-391.
15. Borowitz D., Parad R.B., Sharp J.K., Sabadosa K.A., Robinson K.A., Rock M.J., Farrell P.M., Sontag M.K., Rosenfeld M., Davis S.D., Marshall B.C., Accurso F.J. Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond. J. Pediatr. 2009, 155:S106-S116.
16. Highsmith W.E., Burch L.H., Zhou Z., Olsen J.C., Boat T.E., Spock A., Gorvoy J.D., Quittel L., Friedman K.J., Silverman L.M., et al. A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations. N. Engl. J. Med. 1994, 331:974-980.
17. Lucarelli M., Narzi L., Piergentili R., Ferraguti G., Grandoni F., Quattrucci S., Strom R. A 96-well formatted method for exon and exon/intron boundary full sequencing of the CFTR gene. Anal. Biochem. 2006, 353:226-235.
18. Morral N., Estivill X. Multiplex PCR amplification of three microsatellites within the CFTR gene. Genomics 1992, 13:1362-1364.
19. Fichou Y., Genin E., Le Marechal C., Audrezet M.P., Scotet V., Ferec C. Estimating the age of CFTR mutations predominantly found in Brittany (Western France). J. Cyst. Fibros. 2008, 7:168-173.
20. NCBI, Single Nucleotide Polymophism.
21. The International HapMap Project Nature 2003, 426:789-796.
22. Estivill X., Bancells C., Ramos C. Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium. Hum. Mutat. 1997, 10:135-154.
23. Bobadilla J.L., Macek M., 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.
24. Morral N., Nunes V., Casals T., Chillon M., Gimenez J., Bertranpetit J., Estivill X. Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers. Hum. Mol. Genet. 1993, 2:1015-1022.
25. Kuningas M., van Bodegom D., May L., Meij J.J., Slagboom P.E., Westendorp R.G. Common CFTR gene variants influence body composition and survival in rural Ghana. Hum. Genet. 2010, 127:201-206.
26. Kerem E., Corey M., Kerem B.S., Rommens J., Markiewicz D., Levison H., Tsui L.C., Durie P. The relation between genotype and phenotype in cystic fibrosis-analysis of the most common mutation (delta F508). N. Engl. J. Med. 1990, 323:1517-1522.
27. Rowntree R.K., Harris A. The phenotypic consequences of CFTR mutations. Ann. Hum. Genet. 2003, 67:471-485.
28. Dipple K.M., McCabe E.R. Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics. Am. J. Hum. Genet. 2000, 66:1729-1735.
29. Dipple K.M., McCabe E.R. Modifier genes convert "simple" Mendelian disorders to complex traits. Mol. Genet. Metab. 2000, 71:43-50.
30. Dipple K.M., Phelan J.K., McCabe E.R. Consequences of complexity within biological networks: robustness and health, or vulnerability and disease. Mol. Genet. Metab. 2001, 74:45-50.
31. Scriver C.R., Waters P.J. Monogenic traits are not simple: lessons from phenylketonuria. Trends Genet. 1999, 15:267-272.
32. Dorfman R., Sandford A., Taylor C., Huang B., Frangolias D., Wang Y., Sang R., Pereira L., Sun L., Berthiaume Y., Tsui L.C., Pare P.D., Durie P., Corey M., Zielenski J. Complex two-gene modulation of lung disease severity in children with cystic fibrosis. J. Clin. Invest. 2008, 118:1040-1049.
33. Kalin N., Dork T., Tummler B. A cystic fibrosis allele encoding missense mutations in both nucleotide binding folds of the cystic fibrosis transmembrane conductance regulator. Hum. Mutat. 1992, 1:204-210.
34. Kiesewetter S., Macek M., Davis C., Curristin S.M., Chu C.S., Graham C., Shrimpton A.E., Cashman S.M., Tsui L.C., Mickle J., et al. A mutation in CFTR produces different phenotypes depending on chromosomal background. Nat. Genet. 1993, 5:274-278.
35. Jambhekar S.K., Carroll J.L., Keiles S. Report of two patients with associated conditions in addition to cystic fibrosis. J. Cyst. Fibros. 2010, 9:269-271.
36. Petreska L., Koceva S., Plaseska D., Chernick M., Gordova-Muratovska A., Fustic S., Nestorov R., Efremov G.D. Molecular basis of cystic fibrosis in the Republic of Macedonia. Clin. Genet. 1998, 54:203-209.