Indian Journal of Gastroenterology

, Volume 37, Issue 1, pp 67–69 | Cite as

PRSS1 (R122H) mutation in an Indian family with low penetrance is associated with pancreatitis phenotype

  • Urmila Steffie Avanthi
  • Govardhan Bale
  • Mohsin Aslam
  • Rupjyoti Talukdar
  • Nageshwar Reddy Duvvur
  • Vishnubhotla Ravikanth Venkata 
Case report
First Online:
Received:
Accepted:
  • 29 Downloads

Abstract

Mutations in PRSS1 gene namely R122H and N29I cause hereditary pancreatitis. They are autosomal dominant with a high penetrance (80%) reported in North American, North-east Asian, and North European ethnicities. However, the mutations are reportedly absent in Indian, African, and South American ethnicities. We report here for the first time a family from India that is positive for R122H mutation in the PRSS1 gene. The proband is symptomatic with chronic pancreatitis, however, the father although heterozygous for R122H is asymptomatic.

Keywords

Hereditary pancreatitis Low penetrance PRSS1 R122H mutation 
This is a preview of subscription content, log in to check access

Notes

Compliance with ethical standards

Conflict of interest

USA, GB, MA, RT, NRD, and RVV declare that they have no conflict of interest.

References

  1. 1.
    Whitcomb DC. Hereditary pancreatitis: new insights into acute and chronic pancreatitis. Gut. 1999;45:317–22.CrossRefPubMedPubMedCentralGoogle Scholar
  2. 2.
    Lowenfels AB, Maisonneuve P, DiMagno EP, et al. Hereditary pancreatitis and the risk of pancreatic cancer. International hereditary pancreatitis study group. J Natl Cancer Inst. 1997;89:442–6.Google Scholar
  3. 3.
    Solomon S, Gelrud A, Low WDC. Penetrance pancreatitis phenotype in a Venezuelan kindred with a PRSS1 R122H mutation. JOP. 2013;14:187–9.PubMedGoogle Scholar
  4. 4.
    Catalano MF, Sahai A, Levy M, et al. EUS-based criteria for the diagnosis of chronic pancreatitis: the Rosemont classification. Gastrointest Endosc. 2009;69:1251–61.CrossRefPubMedGoogle Scholar
  5. 5.
    Chandak GR, Idris MM, Reddy DN, et al. Absence of PRSS1 mutations and association of SPINK1 trypsin inhibitor mutations in hereditary and non-hereditary chronic pancreatitis. Gut. 2004;53:723–8.Google Scholar
  6. 6.
    Rosendahl J, Bödeker H, Mössner J, Teich N. Hereditary chronic pancreatitis. Orphanet J Rare Dis. 2007;2:1.CrossRefPubMedPubMedCentralGoogle Scholar
  7. 7.
    Chen JM, Ferec C. Gene conversion-like missense mutations in the human cationic trypsinogen gene and insights into the molecular evolution of the human trypsinogen family. Mol Genet Metab. 2000;71:463–9.CrossRefPubMedGoogle Scholar
  8. 8.
    Whitcomb DC, Gorry MC, Preston RA, et al. Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene. Nat Genet. 1996;14:141–5.Google Scholar
  9. 9.
    Witt H, Luck W, Becker M. A signal peptide cleavage site mutation in the cationic trypsinogen gene is strongly associated with chronic pancreatitis. Gastroenterolog. 1999;117:7–10.CrossRefGoogle Scholar
  10. 10.
    Rebours V, Boutron-Ruault MC, Schnee M, et al. The natural history of hereditary pancreatitis: a national series. Gut. 2009;58:97–103.CrossRefPubMedGoogle Scholar
  11. 11.
    Liu QC, Gao F, Ou QS, et al. Novel mutation and polymorphism of PRSS1 gene in the Chinese patients with hereditary pancreatitis and chronic pancreatitis. Chin Med J. 2008;121:108–11.Google Scholar
  12. 12.
    Masson E, Le Marechal C, Delcenserie R, Chen JM, Ferec C. Hereditary pancreatitis caused by a double gain-of-function trypsinogen mutation. Hum Genet. 2008;123:521–9.CrossRefPubMedGoogle Scholar
  13. 13.
    Larusch J, Barmada MM, Solomon S, Whitcomb DC. Whole exome sequencing identifies multiple, complex etiologies in an idiopathic hereditary pancreatitis kindred. JOP. 2012;13:258–62.PubMedPubMedCentralGoogle Scholar
  14. 14.
    Masson E, Le Marechal C, Chandak GR, et al. Trypsinogen copy number mutations in patients with idiopathic chronic pancreatitis. Clin Gastroenterol Hepatol. 2008;6:82–8.CrossRefPubMedGoogle Scholar
  15. 15.
    Amann ST, Gates LK, Aston CE, Pandya A, Whitcomb DC. Expression and penetrance of the hereditary pancreatitis phenotype in monozygotic twins. Gut. 2001;48:542–7.CrossRefPubMedPubMedCentralGoogle Scholar

Copyright information

© Indian Society of Gastroenterology 2018

Authors and Affiliations

  1. 1.Asian Healthcare FoundationHyderabadIndia
  2. 2.Asian Institute of GastroenterologyHyderabadIndia

Personalised recommendations