Complete cystic fibrosis transmembrane conductance regulator gene sequencing in patients with idiopathic chronic pancreatitis and controls

Gut

Volumn 54, Issue 10, 2005, Pages 1456-1460

  Weiss, F U ^a   Simon, P ^a   Bogdanova, N ^b   Mayerle, J ^a   Dworniczak, B ^b   Horst, J ^b   Lerch, M M ^a  

^a UNIVERSITY OF GREIFSWALD   (Germany)

^b UNIVERSITY OF MÜNSTER   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

APROTININ; TRANSMEMBRANE CONDUCTANCE REGULATOR; TRYPSINOGEN;

ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; CHILD; CHRONIC PANCREATITIS; CONTROLLED STUDY; CYSTIC FIBROSIS; FEMALE; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; IDIOPATHIC DISEASE; LUNG DISEASE; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RISK FACTOR;

ADOLESCENT; ADULT; AGED; ALLELES; BASE SEQUENCE; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; CHRONIC DISEASE; COHORT STUDIES; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; EXONS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; PANCREATITIS; RISK FACTORS;

EID: 25444432550     PISSN: 00175749     EISSN: None     Source Type: Journal    
DOI: 10.1136/gut.2005.064808     Document Type: Article

References (25)

1. Simon P, Weiss FU, Sahin-Toth M, et al. Hereditary pancreatitis caused by a novel PRSS1 mutation (Arg-122 → Cys) that alters autoactivation and autodegradation of cationic trypsinogen. J Biol Chem 2002;277:5404-10.
2. Whitcomb DC, Gorry MC, Preston RA, et al. Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene. Nat Genet 1996;14:141-5.
3. Chen JM, Mercier B, Audrezet MP, et al. Mutations of the pancreatic secretory trypsin inhibitor (PSTI) gene in idiopathic chronic pancreatitis. Gastroenterology 2001;120:1061-4.
4. Pfutzer RH, Barmada MM, Brunskill AP, et al. SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis. Gastroenterology 2000;119:615-23.
5. Witt H, Luck W, Hennies HC, et al. Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis. Nat Genet 2000;25:213-16.
6. Bhatia E, Balasubramanium K, Rajeswari J, et al. Absence of association between SPINK1 trypsin inhibitor mutations and Type 1 or 2 diabetes mellitus in India and Germany. Diabetologia 2003;46:1710-11.
7. Weiss FU, Simon P, Witt H, et al. SPINK1 mutations and phenotypic expression in patients with pancreatitis associated with trypsinogen mutations. J Med Genet 2003;40:e40.
8. Cohn JA, Friedman KJ, Noone PG, et al. Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis. N Engl J Med 1998;339:653-8.
9. Sharer N, Schwarz M, Malone G, et al. Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. N Engl J Med 1998;339:645-52.
10. Ockenga J, Stuhrmann M, Ballmann M, et al. Mutations of the cystic fibrosis gene, but not cationic trypsinogen gene, are associated with recurrent or chronic idiopathic pancreatitis. Am J Gastroenterol 2000;95:2061-7.
11. Sheth S, Shea JC, Bishop MD, et al. Increased prevalence of CFTR mutations and variants and decreased chloride secretion in primary sclerosing cholangitis. Hum Genet 2003;113:286-92.
12. Bobadilla JL, Macek M Jr, Fine JP, et al. Cystic fibrosis: a worldwide analysis of CFTR mutations-correlation with incidence data and application to screening. Hum Mutat 2002;19:575-606.
13. Simon P, Weiss FU, Zimmer KP, et al. Spontaneous and sporadic trypsinogen mutations in idiopathic pancreatitis. JAMA 2002;288:2122.
14. 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;101:487-96.
15. Niksic M, Romano M, Buratti E, et al. Functional analysis of cis-acting elements regulating the alternative splicing of human CFTR exon 9. Hum Mol Genet 1999;8:2339-49.
16. 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;74:176-9.
17. Hefferon TW, Groman JD, Yurk CE, et al. A variable dinucleotide repeat in the CFTR gene contributes to phenotype diversity by forming RNA secondary structures that alter splicing. Proc Natl Acad Sci U S A 2004;101:3504-9.
18. Bombieri C, Giorgi S, Carles S, et al. A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals. Hum Gener 2000;106:172-8.
19. Noone PG, Zhou Z, Silverman LM, et al. Cystic fibrosis gene mutations and pancreatitis risk: relation to epithelial ion transport and trypsin inhibitor gene mutations. Gastroenterology 2001;121:1310-19.
20. Castellani C, Gomez Lira M, Frulloni L, et al. Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in idiopathic pancreatitis. Hum Mutat 2001;18:166.
21. Audrezet MP, Chen JM, Le Marechal C, et al. Determination of the relative contribution of three genes-the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene-to the etiology of idiopathic chronic pancreatitis. Eur J Hum Genet 2002;10:100-6.
22. Chillon M, Casals T, Mercier B, et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med 1995;332:1475-80.
23. Zielenski J, Patrizio P, Corey M, et al. CFTR gene variant for patients with congenital absence of vas deferens. Am J Hum Genet 1995;57:958-60.
24. Threadgold J, Greenhalf W, Ellis I, et al. The N34S mutation of SPINK1 (PSTI) is associated with a familial pattern of idiopathic chronic pancreatitis but does not cause the disease. Gut 2002;50:675-81.
25. Bernardino AL, Guarita DR, Mott CB, et al. CFTR, PRSS1 and SPINK1 mutations in the development of pancreatitis in Brazilian patients. JOP 2003;4:169-77.