title: Trypsinogen mutations in pancreatic disorders.
abstract: There are multiple PRSS1 mutations described in hereditary pancreatitis but only a minority of these are clinically relevant. The two most frequent point mutations are in exon 2 (N29I) and exon3 (R122H), found in diverse racial populations. Both mutations result in early onset pancreatitis but the mechanism underlying this phenotype is unclear. The frequency of these mutations in such diverse populations suggests they have spontaneously occurred many times. The origin of the major mutations may be explained by gene conversions, accounting for multiple founders. The implications are discussed in terms of mechanism of action of the mutations and clinical presentation.
authors.affiliation: Division of Surgery and Oncology, The University of Liverpool, 5th Floor UCD Building, Daulby Street, Liverpool, L69 3GA, United Kingdom.
authors.forename: Louis J
authors.initials: LJ
authors.lastname: Vitone
authors.forename: William
authors.initials: W
authors.lastname: Greenhalf
authors.forename: Nathan R
authors.initials: NR
authors.lastname: Howes
authors.forename: Michael G T
authors.initials: MG
authors.lastname: Raraty
authors.forename: John P
authors.initials: JP
authors.lastname: Neoptolemos
mesh_terms: D005785:Gene Conversion; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D010195:Pancreatitis / Q000201:enzymology* / Q000235:genetics*; D017354:Point Mutation; D014357:Trypsin; D014362:Trypsinogen / Q000235:genetics* / Q000502:physiology
chemical_list: D014362:Trypsinogen; C489303:PRSS1 protein, human; D014357:Trypsin