Extensive molecular analysis of patients bearing CFTR-related disorders

Journal of Molecular Diagnostics

Volumn 14, Issue 1, 2012, Pages 81-89

  Amato, Felice ^a   Bellia, Chiara ^c   Cardillo, Giuseppe ^a   Castaldo, Giuseppe ^a,b   Ciaccio, Marcello ^c   Elce, Ausilia ^a   Lembo, Francesca ^a   Tomaiuolo, Rossella ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b European School of Molecular Medicine   (Italy)

^c UNIVERSITY OF PALERMO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; SODIUM CHANNEL; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; EXON; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; HUMAN; HUMAN CELL; INTRON; MAJOR CLINICAL STUDY; MOLECULAR GENETICS; PATHOGENESIS; PROTEIN EXPRESSION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SPLICING DEFECT;

ANION TRANSPORT PROTEINS; CARRIER PROTEINS; CASE-CONTROL STUDIES; CELLS, CULTURED; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA MUTATIONAL ANALYSIS; EPITHELIAL CELLS; EPITHELIAL SODIUM CHANNEL; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; HUMANS; MUTATION; TRYPSIN;

EID: 84555195959     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jmoldx.2011.09.001     Document Type: Article

References (41)

1. B.J. Rosenstein, G.R. Cutting The diagnosis of cystic fibrosis: a consensus statement J Pediatr 132 1998 589 595 (Pubitemid 28194575)
2. C. Castellani, H. Cuppens, M. Macek Jr, J.J. Cassiman, E. Kerem, P. Durie, E. Tullis, B.M. Assael, C. Bombieri, A. Brown, T. Casals, M. Claustres, G.R. Cutting, E. Dequeker, J. Dodge, I. Doull, P. Farrell, C. Ferec, E. Girodon, M. Johannesson, B. Kerem, M. Knowles, A. Munck, P.F. Pignatti, D. Radojkovic, P. Rizzotti, M. Schwarz, M. Stuhrmann, M. Tzetis, J. Zielenski, J.S. Elborn Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice J Cyst Fibros 3 2008 179 196
3. R. Tomaiuolo, M. Spina, G. Castaldo Molecular diagnosis of cystic fibrosis: comparison of four analytical procedures Clin Chem Lab Med 41 2003 26 32 (Pubitemid 36285382)
4. G. Castaldo, A. Polizzi, R. Tomaiuolo, C. Cazeneuve, E. Girodon, T. Santostasi, D. Salvatore, V. Raia, N. Rigillo, M. Goossens, F. Salvatore Comprehensive cystic fibrosis mutation epidemiology and haplotype characterization in southern Italy population Ann Hum Genet 69 2003 15 24 (Pubitemid 40202004)
5. R. Tomaiuolo, F. Sangiuolo, C. Bombieri, A. Bonizzato, G. Cardillo, V. Raia, M.R. D'Apice, M.D. Bettin, P.F. Pignatti, G. Castaldo, G. Novelli Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: a multicentric Italian study J Cyst Fibros 7 2008 347 351
6. H. Cuppens, J.J. Cassiman CFTR mutations and polymorphisms in male infertility Int J Androl 27 2004 251 256 (Pubitemid 39371847)
7. M. Taulan, A. Girardet, C. Guittard, J.P. Altieri, C. Templin, C. Beroud, M. des Georges, M. Claustres Large genomic rearrangements in the CFTR gene contribute to CBAVD BMC Med Genet 8 2007 22 26
8. I. Ratbi, M. Legendre, F. Niel, J. Martin, J.C. Soufir, V. Izard, B. Costes, C. Costa, M. Goossens, E. Girodon 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 22 2007 1285 1291 (Pubitemid 47071653)
9. A. Elce, A. Boccia, G. Cardillo, S. Giordano, R. Tomaiuolo, G. Paolella, G. Castaldo Three novel CFTR polymorphic repeats improve segregation analysis for cystic fibrosis Clin Chem 55 2009 1372 1379
10. S.B. Ko, W. Zeng, M.R. Dorwart, X. Luo, K.H. Kim, L. Millen, H. Goto, S. Naruse, A. Soyombo, P.J. Thomas, S. Muallem Gating of CFTR by the STAS domain of SLC26 transporters Nat Cell Biol 6 2004 343 350 (Pubitemid 38584824)
11. M.B. Sheridan, P. Fong, J.D. Groman, C. Conrad, P. Flume, R. Diaz, C. Harris, M. Knowles, G.R. Cutting Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome Hum Mol Genet 14 2005 3493 3498 (Pubitemid 41672131)
12. A.K. Azad, R. Rauh, F. Vermeulen, M. Jaspers, J. Korbmacher, B. Boissier, L. Bassinet, Y. Fichou, M. des Georges, F. Stanke, K. De Boeck, L. Dupont, M. Balascáková, L. Hjelte, P. Lebecque, D. Radojkovic, C. Castellani, M. Schwartz, M. Stuhrmann, M. Schwarz, V. Skalicka, I. de Monestrol, E. Girodon, C. Férec, M. Claustres, B. Tmmler, J.J. Cassiman, C. Korbmacher, H. Cuppens Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease Hum Mutat 30 2009 1093 1103
13. R. Huber, B. Krueger, A. Diakov, J. Korbmacher, S. Haerteis, J. Einsiedel, P. Gmeiner, A.K. Azad, H. Cuppens, J.J. Cassiman, C. Korbmacher, R. Rauh Functional characterization of a partial loss-of-function mutation of the epithelial sodium channel (ENaC) associated with atypical cystic fibrosis Cell Physiol Biochem 25 2010 145 158
14. R. Rauh, A. Diakov, A. Tzschoppe, J. Korbmacher, A.K. Azad, H. Cuppens, J.J. Cassiman, J. Dötsch, H. Sticht, C. Korbmacher A mutation of the epithelial sodium channel associated with atypical cystic fibrosis increases channel open probability and reduces Na+ self inhibition J Physiol 588 2010 1211 1225
15. S. Berwouts, M.A. Morris, E. Girodon, M. Schwarz, S. Manfred, E. Dequeker Mutation nomenclature in practice: findings and recommendations from the cystic fibrosis external quality assessment scheme Hum Mutat 32 2011 1179 1203
16. K. Maruyama, S. Harada, A. Yokoyama, S. Mizukami, S. Naruse, M. Hirota, I. Nishimori, M. Otsuki Association analyses of genetic polymorphisms of GSTM1, GSTT1, NQO1, NAT2, LPL, PRSS1, PST1, and CFTR with chronic alcoholic pancreatitis in Japan Alcohol Clin Exp Res 34 2010 S34 S38
17. K. Mosler, C. Coraux, K. Fragaki, J.M. Zahm, O. Bajolet, K. Bessaci-Kabouya, E. Puchelle, M. Abély, P. Mauran Feasibility of nasal epithelial brushing for the study of airway epithelial functions in CF infants J Cyst Fibros 7 2008 44 53
18. A.S. Ramalho, S. Beck, D. Penque, T. Gonska, H.H. Seydewitz, M. Mall, M.D. Amaral Transcript analysis of the cystic fibrosis splicing mutation 1525-1G>A shows use of multiple alternative splicing sites and suggests a putative role of exonic splicing enhancers J Med Genet 40 2003 1 7
19. T.A. Cooper Use of minigene systems to dissect alternative splicing elements Methods 37 2005 331 340 (Pubitemid 41682503)
20. M. Claustres, C. Guittard, D. Bozon, F. Chevalier, C. Verlingue, C. Ferec, E. Girodon, C. Cazeneuve, T. Bienvenu, G. Lalau, V. Dumur, D. Feldmann, E. Bieth, M. Blayau, C. Clavel, I. Creveaux, M.C. Malinge, N. Monnier, P. Malzac, H. Mittre, J.C. Chomel, J.P. Bonnefont, A. Iron, M. Chery, M. Des Georges Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France Hum Mutat 16 2000 143 156 (Pubitemid 30604904)
21. J.A. Cohn, J.P. Neoptolemos, J. Feng, J. Yan, Z. Jiang, W. Greenhalf, C. McFaul, R. Mountford, S.S. Sommer Increased risk of idiopathic chronic pancreatitis in cystic fibrosis carriers Hum Mutat 26 2005 303 307 (Pubitemid 41361797)
22. N. Sharer, M. Schwarz, G. Malone, A. Howarth, J. Painter, M. Super, J. Braganza Mutations of the cystic fibrosis gene in patients with chronic pancreatitis N Engl J Med 339 1998 645 652 (Pubitemid 28402088)
23. J. Ockenga, M. Stuhrmann, M. Ballmann, N. Teich, V. Keim, T. Dörk, M.P. Manns Mutations of the cystic fibrosis gene, but not cationic trypsinogen gene, are associated with recurrent or chronic idiopathic pancreatitis Am J Gastroenterol 95 2000 2061 2067
24. M. Tzetis, M. Kaliakatsos, M. Fotoulaki, A. Papatheodorou, S. Doudounakis, A. Tsezou, P. Makrythanasis, E. Kanavakis, S. Nousia-Arvanitakis Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis Clin Genet 71 2007 451 457 (Pubitemid 46730655)
25. T. Casals, J. De-Gracia, M. Gallego, J. Dorca, B. Rodriguez-Sanchn, M.D. Ramos, J. Giménez, A. Cister-Bahima, C. Olveira, X. Estivill Bronchiectasis in adult patients: an expression of heterozygosity for CFTR gene mutations? Clin Genet 65 2004 490 495 (Pubitemid 38786872)
26. D. Hubert, I. Fajac, T. Bienvenu, N. Desmazes-Dufeu, M. Ellaffi, J. Dall'Ava-Santucci, D. Dusser Diagnosis of cystic fibrosis in adults with diffuse bronchiectasis J Cyst Fibros 3 2004 15 22 (Pubitemid 38397019)
27. P.F. Pignatti, C. Bombieri, C. Marigo, M. Benetazzo, M. Luisetti Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis Hum Mol Genet 4 1995 635 639
28. C. Castellani, M. Gomez Lira, L. Frulloni, A. Delmarco, M. Marzari, A. Bonizzato, G. Cavallini, P. Pignatti, G. Mastella Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in idiopathic pancreatitis Hum Mutat 18 2001 166
29. E. Dequecker, M. Stuhrmann, M.A. Morris, T. Casals, C. Castellani, M. Claustres, H. Cuppens, M. des Georges, C. Ferec, M. Macek, P.F. Pignatti, H. Scheffer, M. Schwartz, M. Witt, M. Schwarz, E. Girodon Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders: updated European recommendations Eur J Hum Genet 17 2009 51 65
30. J.D. Groman, T.W. Hefferon, T. Casals, L. Bassas, X. Estivill, M. Des Georges, C. Guittard, M. Koudova, M.D. Fallin, K. Nemeth, G. Fekete, L. Kadasi, K. Friedman, M. Schwarz, C. Bombieri, P.F. Pignatti, E. Kanavakis, M. Tzetis, M. Schwartz, G. Novelli, M.R. D'Apice, A. Sobczynska-Tomaszewska, J. Bal, M. Stuhrmann, M. Macek Jr, M. Claustres, G.R. Cutting 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 74 2004 176 179 (Pubitemid 38085249)
31. M. Claustres, M. Laussel, M. Desgeorges, J. Demaille Identification of a 6 bp deletion (3195del6) in exon 17a of the cystic fibrosis (CFTR) gene Hum Mol Genet 3 1994 371 374
32. M. Chilln, T. Dörk, T. Casals, J. Giménez, N. Fonknechten, K. Will, D. Ramos, V. Nunes, X. Estivill 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 56 1995 623 629
33. M. De Braekeleer, C. Férec Mutations in the cystic fibrosis gene in men with congenital bilateral absence of the vas deferens Mol Hum Reprod 2 1996 669 677 (Pubitemid 126717515)
34. D. Dayanga, H. Erdem, E. Yilmaz, A. ahin, C. Sohn, M. zg, T. Dörk Mutations of the CFTR gene in Turkish patients with congenital bilateral absence of the vas deferens Hum Reprod 19 2004 1094 1100 (Pubitemid 38618488)
35. M.C. Romey, S. Tuffery, M. Desgeorges, T. Bienvenu, J. Demaille, M. Claustres Transcript analysis of CFTR frameshift mutations in lymphocytes using the reverse transcription-polymerase chain reaction technique and the protein truncation test Hum Genet 98 1996 328 332 (Pubitemid 26258384)
36. M. Claustres, J.P. Altiéri, C. Guittard, C. Templin, F. Chevalier-Porst, M. Des Georges Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations? BMC Med Genet 5 2004 19
37. G. Castaldo, A. Fuccio, C. Cazeneuve, L. Picci, D. Salvatore, V. Raia, M. Scarpa, M. Goossens, F. Salvatore Detection of five rare cystic fibrosis mutations peculiar to Southern Italy: implications in screening for the disease and phenotype characterization for patients with homozygote mutations Clin Chem 45 1999 957 962 (Pubitemid 29340530)
38. D.B. Mount, M.F. Romero The SLC26 gene family of multifunctional anion exchangers Eur J Physiol 447 2004 710 721 (Pubitemid 38241456)
39. R. Berni Canani, G. Terrin, G. Cardillo, R. Tomaiuolo, G. Castaldo Congenital diarrheal disorders: improved understanding of gene defects is leading to advances in intestinal physiology and clinical management J Pediatr Gastroenterol Nutr 50 2010 360 366
40. H. Lohi, M. Kujala, S. Makela, E. Lehtonen, M. Kestila, U. Saarialho-Kere, D. Markovich, J. Kere Functional characterization of three novel tissue-specific anion exchangers SLC26A7, -A8, and -A9 J Biol Chem 277 2002 14246 14254 (Pubitemid 34968039)
41. S. Mkel, R. Eklund, J. Lhdetie, M. Mikkola, O. Hovatta, J. Kere Mutational analysis of the human SLC26A8 gene: exclusion as a candidate for male infertility due to primary spermatogenic failure Mol Hum Reprod 11 2005 129 132 (Pubitemid 40331293)