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Erschienen in:
23.02.2018 | Case report
PRSS1 (R122H) mutation in an Indian family with low penetrance is associated with pancreatitis phenotype
Erschienen in: Indian Journal of Gastroenterology | Ausgabe 1/2018
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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.