Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of hispanic individuals with cystic fibrosis

Journal of Molecular Diagnostics

Volumn 10, Issue 4, 2008, Pages 368-375

  Schrijver, Iris ^a,b   Rappahahn, Krista ^a   Pique, Lynn ^a   Kharrazi, Martin ^c   Wong, Lee Jun ^d  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b STANFORD UNIVERSITY MEDICAL CENTER   (United States)

^c CALIFORNIA DEPARTMENT OF PUBLIC HEALTH   (United States)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

NUCLEOTIDE; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; CAUCASIAN; CLINICAL ARTICLE; CONTROLLED STUDY; CYSTIC FIBROSIS; EXON; GENE AMPLIFICATION; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; HISPANIC; HOMOZYGOSITY; HUMAN; RACE DIFFERENCE;

EID: 47649098156     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.2353/jmoldx.2008.080004     Document Type: Article

References (51)

1. Anderson MP, Rich DP, Gregory RJ, Smith AE, Welsh MJ: Generation of cAMP-activated chloride currents by expression of CFTR. Science 1991, 251:679-682
2. Schwiebert EM, Egan ME, Hwang TH, Fulmer SB, Allen SS, Cutting GR, Guggino WB: CFTR regulates outwardly rectifying chloride channels through an autocrine mechanism involving ATP. Cell 1995, 81:1063-1073
3. Welsh MJ, Ramsey BW, Accurso F, Cutting G: Cystic fibrosis. The metabolic and molecular basis of inherited diseases, 8th ed. Edited by Scriver CR, Beaudet AL, Sly WS, Valle D. New York, McGraw-Hill, 2001, pp 5121-5188
4. Robertson MB, Choe KA, Joseph PM: Review of the abdominal manifestations of cystic fibrosis in the adult patient. Radiographics 2006, 26:679-690
5. Mackie AD, Thornton SJ, Edenborough FP: Cystic fibrosis-related diabetes. Diabet Med 2003, 20:425-436
6. The Cystic Fibrosis Genotype-Phenotype Consortium: Correlation between genotype and phenotype in patients with cystic fibrosis. N Engl J Med 1993, 329:1308-1313
7. Zielenski J: Genotype and phenotype in cystic fibrosis. Respiration 2000, 67:117-133
8. Abeliovich D, Labon I, Cohen T, Springer C, Avital A, Cutting GR: Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population. Am J Genet 1992, 51:951-956
9. Grody WW, Cutting GR, Klinger KW, Richards CS, Watson MS, Desnick RJ: Subcommittee on Cystic Fibrosis Screening. Accreditation of Genetic Services Committee, ACMG American College of Medical Genetics Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med 2001, 3:149-154
10. Alper OM, Wong LJ, Young S, Pearl M, Graham S, Sherwin J, Nussbaum E, Nielson D, Platzker A, Davies Z, Lieberthal A, Chin T, Shay G, Hardy K, Kharrazi M: Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients. Hum Mutat 2004, 24:353 (Erratum: Hum Mutat 2005, 25:223)
11. 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
12. Arzimanoglou II, Tuchman A, Li Z, Gilbert F, Denning C, Valverde K, Zar H, Quittell L, Arzimanoglou I: Cystic fibrosis carrier screening in Hispanics. Am J Hum Genet 1995, 56:544-547
13. Wong LJ, Wang J, Zhang YH, Hsu E, Heim RA, Bowman CM, Woo MS: Improved detection of CFTR mutations in Southern California Hispanic CF patients. Hum Mutat 2001, 18:296-307
14. Schrijver I, Ramalingam S, Sankaran R, Swanson S, Dunlop CL, Keiles S, Moss RB, Oehlert J, Gardner P, Wassman ER, Kammesheidt A: Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics. J Mol Diagn 2005, 7:289-299
15. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G: Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002, 30:e57
16. Sellner L, Taylor G: MLPA and MAPH. New techniques for detection of gene deletions. Hum Mutat 2004, 23:413-419
17. Dörk T, Macek M Jr, Mekus F, Tümmler B, Tzountzouris J, Casals T, Krebsová A, Koudová M, Sakmaryová I, Macek M Sr, Vávrová V, Zemková D, Ginter E, Petrova NV, Ivaschenko T, Baranov V, Witt M, Pogorzelski A, BaI J, Zékanowsky C, Wagner K, Stuhrmann M, Bauer I, Seydewitz HH, Neumann T, Jakubiczka S: Characterization of a novel 21-kb deletion, CFTRdele2,3 (21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in central and east Europe. Hum Genet 2000, 106:259-268
18. Zielenski J, Rozmahel R, Bozon D, Kerem B, Grzelczak Z, Riordan JR, Rommens J, Tsui LC: Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 1991, 10:214-228
19. Audrézet MP, Chen JM, Raguénès O, Chuzhanova N, Giteau K, Le Maréchal C, Quéré I, Cooper DN, Férec C: Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms. Hum Mutat 2004, 23:343-357
20. Wang J, Bowman CM, Wong LJ: A novel CFTR frame-shift mutation, 935delA, in two Hispanic cystic fibrosis patients. Mol Genet Metab 2000, 70:316-321
21. Orozco L, Velázquez R, Zielenski J, Tsui LC, Chavez M, Lezana JL, Saldana Y, Hernández E, Carnevale A: Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five novel mutations (W1098C, 846delT. P750L, 4160insGGGG and 297-1G→A) Hum Genet 2000, 106:360-365
22. Kammesheidt A, Kharrazi M, Graham S, Young S, Pearl M, Dunlop C, Keiles S: Comprehensive genetic analysis of the cystic fibrosis transmembrane conductance regulator from dried blood specimens: implications for newborn screening. Genet Med 2006, 8:557-562
23. Macek M Jr, Mackova A, Hamosh A, Hilman BC, Selden RF, Lucotte G, Friedman KJ, Knowles MR, Rosenstein BJ, Cutting GR: Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%. Am J Hum Genet 1997, 60:1122-1127
24. Sugarman EA, Rohlfs EM, Silverman LM, Allitto BA: CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations. Genet Med 2004, 6:392-399
25. Chillon M, Casals T, Gimenez J, Nunes V, Estivill X: A cystic fibrosis patient homozygous for the new frameshift mutation 936delTA: description and clinical data. J Med Genet 1994, 31:369-370
26. Chillon M, Casals T, Giménez J, Ramos MD, Palacio A, Morral N, Estivill X, Nunes V: Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes. Hum Genet 1994, 93:447-451
27. Messaoud T, Verlingue C, Denamur E, Pascaud O, Quere I, Fattoum S, Elion J, Ferec C: Distribution of CFTR mutations in cystic fibrosis patients of Tunisian origin: identification of two novel mutations. Eur J Hum Genet 1996, 4:20-24
28. Yoshimura K, Wakazono Y, Iizuka S, Morokawa N, Tada H, Eto Y: A Japanese patient homozygous for the H1085R mutation in the CFTR gene presents with a severe form of cystic fibrosis. Clin Genet 1999, 56:173-175
29. Wang J, Bowman MC, Hsu E, Wertz K, Wong LJ: A novel mutation in the CFTR gene correlates with severe clinical phenotype in seven Hispanic patients. J Med Genet 2000, 37:215-218
30. Wong LJ, Alper OM: Detection of CFTR mutations using temporal temperature gradient gel electrophoresis. Electrophoresis 2004, 25:2593-2601
31. Hantash FM, Milunsky A, Wang Z, Anderson B, Sun W, Anguiano A, Strom CM: A large deletion in the CFTR gene in CBAVD. Genet Med 2006, 8:93-95
32. Hantash FM, Redman JB, Starn K, Anderson B, Buller A, McGinniss MJ, Quan F, Peng M, Sun W, Strom CM: Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening. Hum Genet 2006, 119:126-136
33. Ferec C, Casals T, Chuzhanova N, Macek M Jr, Bienvenu T, Holubova A, King C, McDevitt T, Castellani C, Farrell PM, Sheridan M, Pantaleo SJ, Loumi O, Messaoud T, Cuppens H, Torricelli F, Cutting GR, Williamson R, Ramos MJ, Pignatti PF, Raguenes O, Cooper DN, Audrezet MP, Chen JM: Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms. Eur J Hum Genet 2006, 14:567-576
34. Morral N, Nunes V, Casals T, Cobos N, Asensio O, Dapena J, Estivill X: Uniparental inheritance of microsatellite alleles of the cystic fibrosis gene (CFTR): identification of a 50 kilobase deletion. Hum Mol Genet 1993, 2:677-681
35. Magnani C, Cremonesi L, Giunta A, Magnaghi P, Taramelli R, Ferrari M: Short direct repeats at the breakpoints of a novel large deletion in the CFTR gene suggest a likely slipped mispairing mechanism. Hum Genet 1996, 98:102-108
36. Mickle JE, Macek M Jr, Fulmer-Smentek SB, Egan MM, Schwiebert E, Guggino W, Moss R, Cutting GR: A mutation in the cystic fibrosis transmembrane conductance regulator gene associated with elevated sweat chloride concentrations in the absence of cystic fibrosis. Hum Mol Genet 1998, 7:729-735
37. Lerer I, Laufer-Cahana A, Rivlin JR, Augarten A, Abeliovich D: A large deletion mutation in the CFTR gene (3120+1Kbdel8.6Kb): a founder mutation in the Palestinian Arabs (mutation in brief no. 231). Online Hum Mutat 1999, 13:337
38. Costes B, Girodon E, Vidaud D, Flori E, Ardalan A, Conteville P, Fanen P, Niel F, Vidaud M, Goossens M: Prenatal detection by real-time quantitative PCR and characterization of a new CFTR deletion, 3600+15kbdel5.3kb (or CFTRdele19). Clin Chem 2000, 46:1417-1420
39. Kilinc MO, Ninis VN, Dagli E, Demirkol M, Ozkinay F, Arikan Z, Cogulu O, Huner G, Karakoc F, Tolun A: Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of all CF chromosomes in Turkish patients. Am J Med Genet 2002, 113:250-257
40. Niel F, Martin J, Dastot-Le Moal F, Costes B, Boissier B, Delattre V, Goossens M, Girodon E: Rapid detection of CFTR gene rearrangements impacts on genetic counseling in cystic fibrosis. J Med Genet 2004, 41:e118
41. Chevalier-Porst F, Souche G, Bozon D: Identification and characterization of three large deletions and a deletion/polymorphism in the CFTR gene. Hum Mutat 2005, 25:504
42. Schneider M, Hirt C, Casaulta C, Barben J, Spinas R, Buhlmann U, Spalinger J, Schwizer B, Chevalier-Porst F, Gallati S: Detection of exon deletions within an entire gene (CFTR) by relative quantification on the LightCycler. Clin Chem 2006, 52:2005-2012
43. Nectoux J, Audrezet MP, Viel M, Leroy C, Raguenes O, Ferec C, Lesure JF, Davy N, Renouil M, Cartault F, Bienvenu T: A frequent large rearrangement in the CFTR gene in cystic fibrosis patients from Reunion Island. Genet Test 2006, 10:208-214
44. Niel F, Legendre M, Bienvenu T, Bieth E, Lalau G, Sermet I, Bondeux D, Boukari R, Derelle J, Levy P, Ruszniewski P, Martin J, Costa C, Goossens M, Girodon E: A new large CFTR rearrangement illustrates the importance of searching for complex alleles. Hum Mutat 2006, 27:716-717
45. Schneider M, Hirt C, Casaulta C, Barben J, Spinas R, Buhlmann U, Spalinger J, Schwizer B, Chevalier-Porst F, Gallati S: Large deletions in the CFTR gene: clinics and genetics in Swiss patients with CF. Clin Genet 2007, 72:30-38
46. Taulan M, Girardet A, Guittard C, Altieri JP, Templin C, Beroud C, des Georges M, Claustres M: Large genomic rearrangements in the CFTR gene contribute to CBAVD. BMC Med Genet 2007, 8:22
47. Ratbi I, Legendre M, Niel F, Martin J, Soufir JC, Izard V, Costes B, Costa C, Goossens M, Girodon E: 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
48. Hantash FM, Redman JB, Goos D, Kammesheidt A, McGinniss MJ, Sun W, Strom CM: Consultations in Molecular Diagnostics. Characterization of a recurrent novel large duplication in the cystic fibrosis transmembrane conductance regulator gene. J Mol Diagn 2007, 9:556-560
49. Ainsworth PJ, Koscinski D, Fraser BP, Stuart JA: Family cancer histories predictive of a high risk of hereditary non-polyposis colorectal cancer associate significantly with a genomic rearrangement in hMSH2 or hMLH1. Clin Genet 2004, 66:183-188
50. Pastrello C, Baglioni S, Tibiletti MG, Papi L, Fornasarig M, Morabito A, Agostini M, Genuardi M, Viel A: Stability of BAT26 in tumours of hereditary nonpolyposis colorectal cancer patients with MSH2 intragenic deletion. Eur J Hum Genet 2006, 14:63-68
51. Lai KK, Lo IF, Tong TM, Cheng LY, Lam ST: Detecting exon deletions and duplications of the DMD gene using multiplex ligation-dependent probe amplification (MLPA). Clin Biochem 2006, 39:367-372