Sheila Solomon1, Andres Gelrud, David C Whitcomb. 1. Division of Gastroenterology, Hepatology and Nutrition, University of Pittsburgh, Pittsburgh, PA 15232, USA. solomonsr@upmc.edu
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.
CONTEXT: Hereditary pancreatitis is typically caused by the PRSS1R122H 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 PRSS1R122H variant. Only the proband, an 11-year old boy with severe chronic pancreatitis, and a maternal grandmother with pancreatitis at age 60 years (confirmed PRSS1R122H), are symptomatic. CONCLUSIONS: Issues of mutation prevalence, non-penetrance, and disease recognition in various countries are discussed.
Authors: Jiafen Gong; Fan Wang; Bowei Xiao; Naim Panjwani; Fan Lin; Katherine Keenan; Julie Avolio; Mohsen Esmaeili; Lin Zhang; Gengming He; David Soave; Scott Mastromatteo; Zeynep Baskurt; Sangook Kim; Wanda K O'Neal; Deepika Polineni; Scott M Blackman; Harriet Corvol; Garry R Cutting; Mitchell Drumm; Michael R Knowles; Johanna M Rommens; Lei Sun; Lisa J Strug Journal: PLoS Genet Date: 2019-02-26 Impact factor: 5.917
Authors: Marcio Garrison Dytz; Julia Mendes de Melo; Olga de Castro Santos; Isabel Durso da Silva Santos; Melanie Rodacki; Flavia Lucia Conceição; Tania Maria Ortiga-Carvalho Journal: Medicine (Baltimore) Date: 2015-09 Impact factor: 1.817