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

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).3 We have identified a novel PRSS1 mutation in seven subjects with chronic pancreatitis (CP) from three generations of an Italian family. The index patient was a 57 year old man with CP referred to our hospital for ductal adenocarcinoma of the pancreatic head. Eleven relatives were examined, and an uncle, also with CP, had died in an accident. Congenital malformations and alcoholic, biliary, obstructive, and autoimmune pancreatitis were ruled out. Eleven subjects gave their written consent to the study. The cystic fibrosis assay (CF-OLA; Applied Biosystems, California, USA) was used to look for 31 …