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Case report
Novel cationic trypsinogen (PRSS1) N29T and R122C mutations cause autosomal dominant hereditary pancreatitis
  1. R Pfützer1,
  2. E Myers2,
  3. S Applebaum-Shapiro1,
  4. R Finch3,
  5. I Ellis4,
  6. J Neoptolemos4,
  7. J A Kant5,
  8. D C Whitcomb6
  1. 1Department of Medicine, University of Pittsburgh, Pittsburgh, PA, USA
  2. 2Center for Genomic Sciences, University of Pittsburgh, Pittsburgh, PA, USA
  3. 3Department of Human Genetics and Center for Genomic Sciences, University of Pittsburgh, Pittsburgh, PA, USA
  4. 4Department of Surgery, University of Liverpool, Liverpool, UK
  5. 5Department of Pathology, University of Pittsburgh, Pittsburgh, PA, USA
  6. 6Departments of Medicine, Human Genetics, Cell Biology and Physiology, and Center for Genomic Sciences, University of Pittsburgh, Pittsburgh, PA, USA, and Division of Gastroenterology, VA Pittsburgh Health Care System, Pittsburgh, PA, USA
  1. Correspondence to:
    Dr D C Whitcomb, University of Pittsburgh, 571 Scaife Hall, 3550 Terrace Street, Pittsburgh, PA 15101, USA;
    whitcomb{at}pitt.edu

Abstract

Hereditary pancreatitis (HP) is usually caused by mutations in the cationic trypsinogen (PRSS1) gene, especially R122H or N29I. We sequenced the PRSS1 gene in the proband of families without these common mutations. Novel R122C and N29T mutations were detected in independent families that segregated with the disease in an autosomal dominant fashion. The R122C mutation eliminates the arginine autolysis site as with R122H mutations. The N29T mutation may also enhance intrapancreatic trypsin activity as has been demonstrated in vitro. Identification of these new mutations requires special attention as commonly used detection methods may fail.

  • N29T mutations
  • R122C mutations
  • pancreatitis
  • HP, hereditary pancreatitis
  • RFLP, restriction fragment length polymorphism
  • PCR, polymerase chain reaction

https://doi.org/10.1136/gut.50.2.271

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