Hereditary pancreatitis caused by triplication of the trypsinogen locus

Nat Genet. 2006 Dec;38(12):1372-4. doi: 10.1038/ng1904. Epub 2006 Oct 29.


Hereditary pancreatitis has been reported to be caused by 'gain-of-function' missense mutations in the cationic trypsinogen gene (PRSS1). Here we report the triplication of a approximately 605-kb segment containing the PRSS1 gene on chromosome 7 in five families with hereditary pancreatitis. This triplication, which seems to result in a gain of trypsin through a gene dosage effect, represents a previously unknown molecular mechanism causing hereditary pancreatitis.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Chromosomes, Human, Pair 7 / genetics
  • Female
  • Gene Dosage
  • Gene Duplication
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Pancreatitis / enzymology*
  • Pancreatitis / genetics*
  • Pedigree
  • Trypsin
  • Trypsinogen / genetics*


  • Trypsinogen
  • PRSS1 protein, human
  • Trypsin