The variable phenotype of the p.A16V mutation of cationic trypsinogen (PRSS1) in pancreatitis families

Gut

Volumn 59, Issue 3, 2010, Pages 357-363

  Grocock, Christopher J ^a   Rebours, Vinciane ^b   Delhaye, Myriam N ^c   Andrén Sandberg, Åke ^d   Weiss, Frank Ulrich ^e   Mountford, Roger ^f   Harcus, Matthew J ^a   Niemczyck, Edyta ^a   Vitone, Louis J ^a   Dodd, Susanna ^a   Jørgensen, Maiken Thyregod ^g   Ammann, Rudolf W ^h   De Muckadell, Ove Schaffalitzky ^g   Butler, Jane V ^a   Burgess, Phillip ⁱ   Kerr, Bronwyn ^j   Charnley, Richard ^k   Sutton, Robert ^a   Raraty, Michael G ^a   Devière, Jacques ^c   Whitcomb, David C ^l   Neoptolemos, John P ^a   Lévy, Philippe ^b   Lerch, Markus M ^e   Greenhalf, William ^a   more..

^a UNIVERSITY OF LIVERPOOL   (United Kingdom)

^b BEAUJON HOSPITAL   (France)

^c ERASME HOSPITAL   (Belgium)

^d KAROLINSKA INSTITUTE   (Sweden)

^e UNIVERSITY OF GREIFSWALD   (Germany)

^f LIVERPOOL WOMEN S HOSPITAL   (United Kingdom)

^g ODENSE UNIVERSITY HOSPITAL   (Denmark)

^h UNIVERSITY HOSPITAL ZURICH   (Switzerland)

ⁱ GREAT WESTERN HOSPITAL   (United Kingdom)

^j ST MARY S HOSPITAL   (United Kingdom)

^k FREEMAN HOSPITAL   (United Kingdom)

^l UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DNA; STRATUM CORNEUM CHYMOTRYPTIC ENZYME; TRYPSINOGEN;

ARTICLE; CANCER REGISTRY; CONTROLLED STUDY; DIABETES MELLITUS; GENE MUTATION; GENETIC ANALYSIS; HUMAN; INHERITANCE; PANCREAS CANCER; PANCREAS INSUFFICIENCY; PANCREATITIS; PHENOTYPE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGE OF ONSET; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; INFANT; MALE; MIDDLE AGED; MUTATION; NEOPLASM PROTEINS; PANCREATIC NEOPLASMS; PANCREATITIS; PEDIGREE; PENETRANCE; TRYPSIN; YOUNG ADULT;

EID: 77749320416     PISSN: 00175749     EISSN: 14683288     Source Type: Journal    
DOI: 10.1136/gut.2009.186817     Document Type: Article

References (21)

1. Rebours V, Boutron-Ruault MC, Schnee M, et al. Risk of pancreatic adenocarcinoma in patients with hereditary pancreatitis: a national exhaustive series. Am J Gastroenterol 2008;103:111-19.
2. Howes N, Lerch MM, Greenhalf W, et al. Clinical and genetic characteristics of hereditary pancreatitis in Europe. Clin Gastroenterol Hepatol 2004;2:252-61.
3. Lowenfels AB, Maisonneuve P, DiMagno EP, et al. Hereditary pancreatitis and the risk of pancreatic cancer. International Hereditary Pancreatitis Study Group. J Natl Cancer Inst 1997;89:442-6.
4. Paolini O, Hastier P, Buckley M, et al. The natural history of hereditary chronic pancreatitis: a study of 12 cases compared to chronic alcoholic pancreatitis. Pancreas 1998;17:266-71.
5. Konzen KM, Perrault J, Moir C, et al. Long-term follow-up of young patients with chronic hereditary or idiopathic pancreatitis. Mayo Clin Proc 1993;68:449-53.
6. 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.
7. Gorry MC, Gabbaizedeh D, Furey W, et al. Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis. Gastroenterology 1997;113:1063-8.
8. Chen JM, Piepoli Bis A, Le Bodic L, et al. Mutational screening of the cationic trypsinogen gene in a large cohort of subjects with idiopathic chronic pancreatitis. Clin Genet 2001;59:189-93.
9. Chandak GR, Idris MM, Reddy DN, et al. Absence of PRSS1 mutations and association of SPINK1 trypsin inhibitor mutations in hereditary and non-hereditary chronic pancreatitis. Gut 2004;53:723-8.
10. Teich N, Rosendahl J, Toth M, et al. Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis. Hum Mutat 2006;27:721-30.
11. Witt H, Luck W, Becker M. A signal peptide cleavage site mutation in the cationic trypsinogen gene is strongly associated with chronic pancreatitis. Gastroenterology 1999;117:7-10.
12. Simon P, Weiss FU, Zimmer KP, et al. Spontaneous and sporadic trypsinogen mutations in idiopathic pancreatitis. JAMA 2002;288:2122.
13. 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.
14. Kereszturi E, Kiraly O, Sahin-Toth M. Minigene analysis of intronic variants in common SPINK1 haplotypes associated with chronic pancreatitis. Gut 2009;58:545-9.
15. Watson MS, Cutting GR, Desnick RJ, et al. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med 2004;6:387-91.
16. Masson E, Chen JM, Scotet V, et al. Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis. Hum Genet 2008;123:83-91.
17. Truninger K, Kock J, Wirth HP, et al. Trypsinogen gene mutations in patients with chronic or recurrent acute pancreatitis. Pancreas 2001;22:18-23.
18. Sahin-Toth M. Human cationic trypsinogen. Role of Asn-21 in zymogen activation and implications in hereditary pancreatitis. J Biol Chem 2000;275:22750-5.
19. Sahin-Toth M, Toth M. Gain-of-function mutations associated with hereditary pancreatitis enhance autoactivation of human cationic trypsinogen. Biochem Biophys Res Commun 2000;278:286-9.
20. Kereszturi E, Szmola R, Kukor Z, et al. Hereditary pancreatitis caused by mutation-induced misfolding of human cationic trypsinogen: a novel disease mechanism. Hum Mutat 2009;30:575-82.
21. Nemoda Z, Sahin-Toth M. Chymotrypsin C (caldecrin) stimulates autoactivation of human cationic trypsinogen. J Biol Chem 2006;281:11879-86.