Association of a new cationic trypsinogen gene mutation (V39A) with chronic pancreatitis in an Italian family

• Published in: Gut Vol. 54; no. 11; pp. 1663 - 1664
• Main Authors: Arduino, C, Salacone, P, Pasini, B, Brusco, A, Salmin, P, Bacillo, E, Robecchi, A, Cestino, L, Cirillo, S, Regge, D, Cappello, N, Gaia, E
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group Ltd and British Society of Gastroenterology 01-11-2005; BMJ Publishing Group LTD; Copyright 2005 by Gut
• Subjects: Adult; Age; cationic trypsinogen; Chronic Disease; Cystic fibrosis; Female; Genes; Genetic Predisposition to Disease; hereditary pancreatitis; Humans; Letter; Male; Middle Aged; Morphology; Mutation; Pancreatitis - genetics; Patients; Pedigree; PRSS1; Trypsinogen - genetics
• ISSN: 0017-5749; 1468-3288; 1458-3288
• DOI: 10.1136/gut.2004.062992

Predisposition to hereditary pancreatitis has been associated with mutations in three genes: protease, serine, 1 (PRSS1), which codes for cationic trypsinogen, 1 cystic fibrosis transmembrane conductance regulator (CFTR), 2 and serine protease inhibitor Kazal type 1 (SPINK1). [...]the presence of the V39A mutation in seven of the CP patients, its absence in their healthy relatives, the 3.0 lod score, and the strong evolutionary conservation of V39, all indicate that the novel mutation is the cause of CP in this family.