Low penetrance pancreatitis phenotype in a Venezuelan kindred with a PRSS1 R122H mutation.

Sheila Solomon, Andres Gelrud, David C Whitcomb

Division of Gastroenterology, Hepatology and Nutrition, University of Pittsburgh, Pittsburgh, PA 15232, USA. solomonsr@upmc.edu

JOP : Journal of the pancreas 2013 Mar

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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. 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. Issues of mutation prevalence, non-penetrance, and disease recognition in various countries are discussed.

Citation

Sheila Solomon, Andres Gelrud, David C Whitcomb. Low penetrance pancreatitis phenotype in a Venezuelan kindred with a PRSS1 R122H mutation. JOP : Journal of the pancreas. 2013 Mar;14(2):187-9