title: Low penetrance pancreatitis phenotype in a Venezuelan kindred with a PRSS1 R122H mutation.
abstract: BACKGROUND
  Hereditary pancreatitis is typically caused by the PRSS1 R122H or N29I mutations resulting in high penetrance (about 80%) autosomal dominant disorder that is usually reported in North America, Northern Europe and Northeast Asia, but not South America, Africa or India.
  
  
  METHODS
  Here we report a kindred from Venezuela, South America with the PRSS1 R122H variant. Only the proband, an 11-year old boy with severe chronic pancreatitis, and a maternal grandmother with pancreatitis at age 60 years (confirmed PRSS1 R122H), are symptomatic.
  
  
  CONCLUSIONS
  Issues of mutation prevalence, non-penetrance, and disease recognition in various countries are discussed.
authors.affiliation: Division of Gastroenterology, Hepatology and Nutrition, University of Pittsburgh, Pittsburgh, PA 15232, USA. solomonsr@upmc.edu
authors.forename: Sheila
authors.initials: S
authors.lastname: Solomon
authors.forename: Andres
authors.initials: A
authors.lastname: Gelrud
authors.forename: David C
authors.initials: DC
authors.lastname: Whitcomb
mesh_terms: D019943:Amino Acid Substitution / Q000502:physiology; D001120:Arginine / Q000235:genetics; D002648:Child; D005190:Family; D005260:Female; D006639:Histidine / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000502:physiology; D050500:Pancreatitis, Chronic / Q000235:genetics*; D010375:Pedigree; D019683:Penetrance; D010641:Phenotype; D014357:Trypsin / Q000235:genetics*; D014687:Venezuela
chemical_list: D006639:Histidine; D001120:Arginine; C489303:PRSS1 protein, human; D014357:Trypsin