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
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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 

Notes

Compliance with ethical standards

Conflict of interest

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

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Copyright information

© Indian Society of Gastroenterology 2018

Authors and Affiliations

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

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