Trypsinogen mutations in pancreatic disorders.
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.
Vitone
Louis J
LJ
Division of Surgery and Oncology, The University of Liverpool, 5th Floor UCD Building, Daulby Street, Liverpool, L69 3GA, United Kingdom.
Greenhalf
William
W
Howes
Nathan R
NR
Raraty
Michael G T
MG
Neoptolemos
John P
JP
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
D014362:Trypsinogen; C489303:PRSS1 protein, human; D014357:Trypsin