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Association of a new cationic trypsinogen gene mutation (V39A) with chronic pancreatitis in an Italian family
  1. C Arduino1,
  2. P Salacone2,
  3. B Pasini3,
  4. A Brusco3,
  5. P Salmin4,
  6. E Bacillo5,
  7. A Robecchi6,
  8. L Cestino6,
  9. S Cirillo7,
  10. D Regge7,
  11. N Cappello8,
  12. E Gaia9
  1. 1SC Genetica Medica, ASOS Giovanni Battista, Torino, Italy
  2. 2SC Gastroenterologia, ASO San Luigi Gonzaga, Orbassano (TO), Italy
  3. 3Università di Torino, Dipartimento di Genetica, Biologia e Biochimica, Torino, Italy
  4. 4SC Genetica Medica, ASOS Giovanni Battista, Torino, Italy
  5. 5SC Gastroenterologia, ASO San Luigi Gonzaga, Orbassano (TO), Italy
  6. 6Università di Torino, Dipartimento di Discipline Cliniche e Chirurgiche, Chirurgia 5, ASOS Giovanni Battista, Torino, Italy
  7. 7SC Radiologia, IRCC, Candiolo (TO), Italy
  8. 8Università di Torino, Dipartimento di Genetica, Biologia e Biochimica, Torino, Italy
  9. 9SC Gastroenterologia, ASO San Luigi Gonzaga, Orbassano (TO), Italy
  1. Correspondence to:
    Dr E Gaia
    Gastroenterology Unit, S Luigi Gonzaga Hospital, Regione Gonzole 10, 10043 Orbassano, Italy; eziogaiatiscali.it

https://doi.org/10.1136/gut.2004.062992

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    Predisposition to hereditary pancreatitis has been associated with mutations in three genes: protease, serine, 1 (PRSS1), which codes for cationic trypsinogen,1 cystic fibrosis transmembrane conductance regulator (CFTR),2 and serine protease inhibitor Kazal type 1 (SPINK1).3

    We have identified a novel PRSS1 mutation in seven subjects with chronic pancreatitis (CP) from three generations of an Italian family. The index patient was a 57 year old man with CP referred to our hospital for ductal adenocarcinoma of the pancreatic head. Eleven relatives were examined, and an uncle, also with CP, had died in an accident.

    Congenital malformations and alcoholic, biliary, obstructive, and autoimmune pancreatitis were ruled out. Eleven subjects gave their written consent to the study.

    The cystic fibrosis assay (CF-OLA; Applied Biosystems, California, USA) was used to look for 31 …

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    Footnotes

    • Conflict of interest: None declared.