Comprehensive and rapid genotyping of mutations and haplotypes in congenital bilateral absence of the vas deferens and other cystic fibrosis transmembrane conductance regulator-related disorders

Journal of Molecular Diagnostics

Volumn 9, Issue 5, 2007, Pages 582-588

  Bareil, Corinne ^a   Guittard, Caroline ^a   Altieri, Jean Pierre ^a   Templin, Carine ^a   Claustres, Mireille ^a,b,c   Des Georges, Marie ^a,b,c  

^a HÔPITAL ARNAUD DE VILLENEUVE   (France)

^b UNIV MONTPELLIER   (France)

^c INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; DENATURING GRADIENT GEL ELECTROPHORESIS; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; EXON; FLUORESCENCE; GENE AMPLIFICATION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; INTRON; MALE GENITAL TRACT MALFORMATION; SEQUENCE ANALYSIS; VAS DEFERENS;

EID: 36348994265     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.2353/jmoldx.2007.070040     Document Type: Article

References (31)

1. Audrézet MP, Chen JM, Raguenes O, Chuzhanova N, Giteau K, Le Marechal C, Quere I, Cooper DN, Ferec C: Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms. Hum Mutat 2004, 23:343-357
2. 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 counselling in cystic fibrosis. J Med Genet 2004, 41:e118
3. Bombieri C, Bonizzato A, Castellani C, Assael BM, Pignatti PF: Frequency of large CFTR gene rearrangements in Italian CF patients. Eur J Hum Genet 2005, 13:687-689
4. Hantash FM, Redman JB, Starn K, Anderson B, Bulier 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
5. 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
6. 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
7. 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
8. Claustres M, Guittard C, Bozon D, Chevalier F, Verlingue C, Ferec C, Girodon E, Cazeneuve C, Bienvenu T, Lalau G, Dumur V, Feldmann D, Bieth E, Blayau M, Clavel C, Creveaux I, Malinge MC, Monnier N, Malzac P, Mittre H, Chomel JC, Bonnefont JP, Iron A, Chery M, Georges MD: Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France. Hum Mutat 2000, 16:143-156
9. Claustres M: Molecular pathology of the CFTR locus in male infertility. Reprod Biomed Online 2005, 10:14-41
10. Buratti E, Baralle FE: Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9. J Biol Chem 2001, 276:36337-36343
11. Viel M, Leroy C, Des Georges M, Claustres M, Bienvenu T: Novel length variant of the polypyrimidine tract within the splice acceptor site in intron 8 of the CFTR gene: consequences for genetic testing using standard assays. Eur J Hum Genet 2005, 13:136-138
12. Millson A, Pont-Kingdon G, Page S, Lyon E: Direct molecular haplotyping of the IVS-8 poly(TG) and polyT repeat tracts in the cystic fibrosis gene by melting curve analysis of hybridization probes. Clin Chem 2005, 51:1619-1623
13. Kobler D, Modi H, Goldman B: Identification of an 11T allele in the polypyrimidine tract of intron 8 of the CFTR gene. Genet Med 2006, 8:125-128
14. Cuppens H, Lin W, Jaspers M, Costes B, Teng H, Vankeerberghen A, Jorissen M, Droogmans G, Reynaert I, Goossens M, Nilius B, Cassiman JJ: Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes: the polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation. J Clin Invest 1998, 101:487-496
15. Disset A, Michot C, Harris A, Buratti E, Claustres M, Tuffery-Giraud S: A T3 allele in the CFTR gene exacerbates exon 9 skipping in vas deferens and epididymal cell lines and is associated with congenital bilateral absence of vas deferens (CBAVD). Hum Mutat 2005, 25:72-81
16. Groman JD, Hefferon TW, Casals T, Bassas L, Estivill X, Des Georges M, Guittard C, Koudova M, Fallin MD, Nemeth K, Fekete G, Kadasi L, Friedman K, Schwarz M, Bombieri C, Pignatti PF, Kanavakis E, Tzetis M, Schwartz M, Novelli G, D'Apice MR, Sobczynska-Tomaszewska A, Bal J, Stuhrmann M, Macek Jr M, Claustres M, Cutting GR: Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign. Am J Hum Genet 2004, 74:176-179
17. 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
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. Fanen P, Ghanem N, Vidaud M, Besmond C, Martin J, Costes B, Plassa F, Goossens M: Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions. Genomics 1992, 13:770-776
20. Chillón M, Casals T, Mercier B, Bassas L, Lissens W, Silber S, Romey MC, Ruiz-Romero J, Verlingue C, Claustres M, Nunes V, Férec C, Estivill X: Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med 1995, 332:1475-1480
21. Chillón M, Dork T, Casals T, Gimenez J, Fonknechten N, Will K, Ramos D, Nunes V, Estivill X: A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811 + 1.6kbA→G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype. Am J Hum Genet 1995, 56:623-629
22. Highsmith WE, Burch LH, Zhou Z, Olsen JC, Boat TE, Spock A, Gorvoy JD, Quittel L, Friedman KJ, Silverman LM, Boucher RC, Knowles MR: 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
23. Dörk T, Dworniczak B, Aulehla-Scholz C, Wieczorek D, Bohm I, Mayerova A, Seydewitz HH, Nieschlag E, Meschede D, Horst J, Pander HJ, Sperling H, Ratjen F, Passarge E, Schmidtke J, Stuhrmann M: Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. Hum Genet 1997, 100:365-377
24. Don RH, Cox PT, Wainwright BJ, Baker K, Mattick JS: 'Touchdown' PCR to circumvent spurious priming during gene amplification. Nucleic Acids Res 1991, 19:4008
25. Strom CM, Huang D, Chen C, Buller A, Peng M, Quan F, Redman J, Sun W: Extensive sequencing of the cystic fibrosis transmembrane regulator gene: assay validation and unexpected benefits of developing a comprehensive test. Genet Med 2003, 5:9-14
26. 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
27. McGinniss MJ, Chen C, Redman JB, Buller A, Quan F, Peng M, Giusti R, Hantash FM, Huang D, Sun W, Strom CM: Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples. Hum Genet 2005, 118:331-338
28. Baux D, Larrieu L, Blanchet C, Hamel C, Ben Salah S, Vielle A, Gilbert-Dussardier B, Holder M, Calvas P, Philip N, Edery P, Bonneau D, Claustres M, Malcolm S, Roux AF: Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients. Hum Mutat 2007, 28:781-789
29. Roux AF, Faugere V, Le Guedard S, Pallares-Ruiz N, Vielle A, Chambert S, Marlin S, Hamel C, Gilbert B, Malcolm S, Claustres M: Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. J Med Genet 2006, 43:763-768
30. Lucarelli M, Grandoni F, Rossi T, Mazzilli F, Antonelli M, Strom R: Simultaneous cycle sequencing assessment of (TG)m and Tn tract length in CFTR gene. Biotechniques 2002, 32:540-542, 544-547
31. Costa C, Goossens M, Girodon E: Simultaneous molecular haplotyping of both IVS8 (TG)m and (T)n tracts in the CFTR gene: still a challenge. Clin Chem 2006, 52:1621-1622; author reply 1622