PRSS1 (R122H) mutation in an Indian family with low penetrance is associated with pancreatitis phenotype
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 mutationNotes
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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© Indian Society of Gastroenterology 2018