P.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: Results from a large collaborative study

European Journal of Human Genetics

Volumn 19, Issue 1, 2011, Pages 36-42

  René, Céline ^a,b,c   Paulet, Damien ^a,b   Girodon, Emmanuelle ^b   Costa, Catherine ^b   Lalau, Guy ^d   Leclerc, Julie ^d   Cabet Bey, Faza ^e   Bienvenu, Thierry ^f   Blayau, Martine ^g   Iron, Albert ^h   Mittre, Hervé ⁱ   Feldmann, Delphine ^j   Guittard, Caroline ^c   Claustres, Mireille ^a,b,c   Georges, Marie Des ^c  

^a UNIV MONTPELLIER   (France)

^b INSERM   (France)

^c HÔPITAL ARNAUD DE VILLENEUVE   (France)

^d LILLE UNIVERSITY HOSPITAL   (France)

^e HOSPICES CIVILS DE LYON   (France)

^f Institut Cochin   (France)

^g PONTCHAILLOU UNIVERSITY HOSPITAL   (France)

^h HÔPITAL PELLEGRIN   (France)

ⁱ CHU Clemenceau   (France)

^j ARMAND TROUSSEAU HOSPITAL   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; SERINE; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; COMPUTER MODEL; CONTROLLED STUDY; CYSTIC FIBROSIS; EPIDEMIOLOGICAL DATA; FAMILY HISTORY; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; HUMAN CELL; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; VAS DEFERENS;

EID: 85027927053     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.137     Document Type: Article

References (42)

1. Kerem E: Atypical CFand CF related diseases. Paediatr Respir Rev2006; 7 (Suppl 1): S144-S146.
2. Cotton RG, Scriver CR: Proof of'disease causing' mutation. Hum Mutat 1998; 12: 1-3.
3. Castellani C, Cuppens H, Macek Jr M et al: Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibros 2008; 7: 179-196.
4. Savov A, Angelicheva D, Balassopoulou A, Jordanova A, Noussia-Arvanitakis S, Kalaydjieva L Double mutant alleles: are they rare? Hum Mol Genet 1995; 4: 1169-1171.
5. Fanen P, Clain J, Labarthe R etal: Structure-function analysis of a double-mutant cystic fibrosis transmembrane conductance regulator protein occurring in disorders related to cystic fibrosis. FEBS Lett 1999; 452: 371-374.
6. Romey MC, Guittard C, Chazalette JP etal: Complex allele (-102T>A+S549R(T>G)) is associated with milder forms of cystic fibrosis than allele S549R(T>G) alone. Hum Genet 1999; 105: 145-150.
7. Clain J, Fritsch J, Lehmann-Che J etal: Two mild cystic fibrosis-associated mutations result in severe cystic fibrosis when combined in cis and reveal a residue important for cystic fibrosis transmembrane conductance regulator processing and function. J Biol Chem 2001; 276: 9045-9049.
8. Rohlfs EM, Zhou Z, Sugarman EA et al: The I148T CFTR allele occurs on multiple haplotypes: a complex allele is associated with cystic fibrosis. Genet Med 2002; 4: 319-323.
9. Clain J, Lehmann-Che J, Girodon E et al: A neutral variant involved in a complex CFTR allele contributes to a severe cystic fibrosis phenotype. Hum Genet 2005; 116: 454-460.
10. Niel F, Legendre M, Bienvenu T et al: A new large CFTR rearrangement illustrates the importance of searching for complex alleles. Hum Mutat 2006; 27: 716-717.
11. Claustres M, Altieri JP, Guittard C, Templin C, Chevalier-Porst F, Des Georges M: Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations? BMC Med Genet 2004; 5: 19.
12. Cuppens H, Marynen P, De BoeckC, Cassiman JJ: Detection of 98.5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the CFTR gene. Genomics 1993; 18: 693-697.
13. Wei L, Vankeerberghen A, Jaspers M, Cassiman J, Nilius B, Cuppens H: Suppressive interactions between mutations located in the two nucleotide binding domains of CFTR. FEBS Lett 2000; 473: 149-153.
14. Monaghan KG, Feldman GL, Barbarotto GM, Manji S, Desai TK, Snow K: Frequency and clinical significance of the S1235R mutation in the cystic fibrosis transmembrane conductance regulator gene: results from a collaborative study. Am J Med Genet 2000; 95: 361-365.
15. Dequeker E, Stuhrmann M, Morris MA 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.
16. Oca F, Dreux S, Gerard B et al: Amniotic fluid digestive enzyme analysis is useful for identifying CFTR gene mutations of unclear significance. Clin Chem 2009; 55: 2214-2217.
17. Caggana M, Conroy JM, Pass KA: Rapid, efficient method for multiplex amplification from filter paper. Hum Mutat 1998; 11: 404-409.
18. Cartegni L, Wang J, Zhu Z, Zhang MQ, Krainer AR: ESEfinder: a web resource to identify exonic splicing enhancers. Nucleic Acids Res 2003; 31: 3568-3571.
19. Fairbrother WG, Yeh RF, Sharp PA, Burge CB: Predictive identification of exonic splicing enhancers in human genes. Science 2002; 297: 1007-1013.
20. Sironi M, Menozzi G, Riva L et al: Silencer elements as possible inhibitors of pseudoexon splicing. Nucleic Acids Res 2004; 32: 1783-1791.
21. WangZ, Rolish ME, Yeo G, Tung V, Mawson M, Burge CB: Systematic identification and analysis of exonic splicing silencers. Cell 2004; 119: 831-845.
22. Eudes R, Lehn P, Ferec C, Mornon JP, Callebaut I: Nucleotide binding domains of human CFTR: a structural classification of critical residues and disease-causing mutations. Cell Mol Life Sci 2005; 62: 2112-2123.
23. Rene C, Taulan M, Iral F et al: Binding of serum response factor to cystic fibrosis transmembrane conductance regulator CArG-like elements, as a new potential CFTR transcriptional regulation pathway. Nucleic Acids Res 2005; 33: 5271-5290.
24. Disset A, Michot C, Harris A, Buratti E, Claustres M, Tuffery-Giraud S: AT3 allele in the CFTR gene exacerbates exon 9 skipping invas deferens and epididymal cell lines and is associated with Congenital Bilateral Absence of Vas Deferens (CBAVD). Hum Mutat 2005; 25: 72-81.
25. Groman JD, Hefferon TW, Casals T et al: 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.
26. Claustres M: Molecular pathology of the CFTR locus in male infertility. Reprod Biomed Online2005; 10: 14-41.
27. Feldmann D, Couderc R, Audrezet MP etal: CFTR genotypes in patients with normal or borderline sweat chloride levels. Hum Mutat 2003; 22: 340.
28. Muller F, Simon-Bouy B, Girodon E, Monnier N, Malinge MC, Serre JL Predicting the risk of cystic fibrosis with abnormal ultrasound signs of fetal bowel: results of a French molecular collaborative study based on 641 prospective cases. Am J Med Genet 2002; 110: 109-115.
29. Bombieri C, Benetazzo M, Saccomani A et al: Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease. Hum Genet 1998; 103: 718-722.
30. Casals T, De-Gracia J, Gallego M et al: Bronchiectasis in adult patients: an expression of heterozygosity for CFTR gene mutations? Clin Genet 2004; 65: 490-495.
31. Pallares-Ruiz N, Carles S, Des Georges M et al: Complete mutational screening of the cystic fibrosis transmembrane conductance regulator gene: cystic fibrosis mutations are not involved in healthy men with reduced sperm quality. Hum Reprod 1999; 14: 3035-3040.
32. Claustres M, Guittard C, Bozon D et al: Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France. Hum Mutat 2000; 16: 143-156.
33. Callebaut I, Eudes R, Mornon JP, Lehn P: Nucleotide-binding domains of human cystic fibrosis transmembrane conductance regulator: detailed sequence analysis and three-dimensional modeling of the heterodimer. Cell Mol Life Sci 2004; 61: 230-242.
34. Desmet F, Hamroun D, Lalande M, Collod-Béroud G, Claustres M, Béroud C: Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res 2009; 37: e67.
35. Cuppens H, Lin W, Jaspers M et al: 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.
36. Sun W, Anderson B, Redman J et al: CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotype. Genet Med 2006; 8: 339-345.
37. Modiano G, Bombieri C, Ciminelli BM et al: A large-scale study of the random variability of a coding sequence: a study on the CFTR gene. Eur J Hum Genet 2005; 13: 184-192.
38. Mateu E, Calafell F, Bonne-Tamir B et al: Allele frequencies in a worldwide survey of a CA repeat in the first intron of the CFTR gene. Hum Hered 1999; 49: 15-20.
39. Claustres M, Desgeorges M, Moine P, Morral N, Estivill X: CFTR haplotypic variability for normal and mutant genes in cystic fibrosis families from southern France. Hum Genet 1996; 98: 336-344.
40. Castellani C, Benetazzo MG, Tamanini A, Begnini A, Mastella G, Pignatti P: Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in neonatal hypertrypsinaemia with normal sweat test. J Med Genet 2001; 38: 202-205.
41. Reboul MP, Laharie D, Amouretti M, Lacombe D, Iron A: Isolated idiopathic chronic pancreatitis associated with a compound heterozygosity for two mutations of the CFTR gene. Gastroenterol Clin Biol 2003; 27: 821-824.
42. Robertson NH, Weston SL, Kelly SJ et al: Development and validation of a screening test for 12 common mutations of the cystic fibrosis CFTR gene. Eur Respir J 1998; 12: 477-482.