Low Penetrance Pancreatitis Phenotype in a Venezuelan Kindred with a PRSS1 R122H Mutation

Sheila Solomon; Andres Gelrud; David C Whitcomb

doi:10.6092/1590-8577/1276

Sheila Solomon Division of Gastroenterology, Hepatology and Nutrition, University of Pittsburgh. Pittsburgh, PA, USA
Andres Gelrud Division of Gastroenterology, Hepatology and Nutrition, University of Pittsburgh. Pittsburgh, PA, USA
David C Whitcomb Division of Gastroenterology, Hepatology and Nutrition, University of Pittsburgh. Pittsburgh, PA, USA

DOI: https://doi.org/10.6092/1590-8577/1276

Keywords: Hereditary pancreatitis, Pancreatitis, Chronic, PRSS1 protein, human

Abstract

Context Hereditary pancreatitis is typically caused by the PRSS1 R122H or N29I mutations resulting in high penetrance (about 80%) autosomal dominant disorder that is usually reported in North America, Northern Europe and Northeast Asia, but not South America, Africa or India. Case report Here we report a kindred from Venezuela, South America with the PRSS1 R122H variant. Only the proband, an 11-year old boy with severe chronic pancreatitis, and a maternal grandmother with pancreatitis at age 60 years (confirmed PRSS1 R122H), are symptomatic. Conclusions Issues of mutation prevalence, non-penetrance, and disease recognition in various countries are discussed.

Image: Pedigree of a Venezuelan kindred.

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