Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in idiopathic pancreatitis

Hum Mutat. 2001 Aug;18(2):166. doi: 10.1002/humu.1172.


Many Cystic Fibrosis (CF) carriers have been detected testing some subjects with chronic pancreatitis for a limited number of mutations. The aim of this study was to find out if some subjects with pancreatitis and a CFTR mutation actually carry another, undetected mutation. We screened for 18 CFTR mutations plus the CFTR intron 8 poly(T) tract length a population of 67 patients suffering from idiopathic either acute, or recurrent acute, or chronic pancreatitis. Three of them were diagnosed as affected by CF. Among the others, a subset of 14 (8 CFTR mutation carriers, 4 5T carriers, and 2 sweat chloride borderliners) was selected and analyzed by denaturing gradient gel electrophoresis. Six possibly CF-related mutations were detected: L997F and 3878delG were found in two of the subjects already carrying another mutation, S1235R and L997F in one patient carrying the 5T, and L997F and D614G in the two patients with borderline sweat chloride. Among the 14 selected cases a total of 11 patients carried at least one mutation, and three of them were compound heterozygotes. Though it is debatable whether these three individuals can be considered affected by CF, their pancreatitis is possibly a clinical manifestation of some CFTR-related disease. Hum Mutat 18:166, 2001.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acute Disease
  • Adolescent
  • Adult
  • Aged
  • Child
  • Child, Preschool
  • Chronic Disease
  • Cystic Fibrosis / complications*
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • DNA Mutational Analysis
  • Exons / genetics
  • Female
  • Genetic Predisposition to Disease / genetics
  • Genetic Testing
  • Heterozygote
  • Humans
  • Introns / genetics
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Open Reading Frames / genetics
  • Pancreatitis / complications*
  • Pancreatitis / genetics*


  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator