We read with great interest the article by Schnur et al 1 reporting the functional effects of 13 serine protease 1 ( PRSS1 ) variants found in sporadic chronic pancreatitis (CP). They reported that five mutants, including p.G208A, showed reduced secretion, suggesting that these variants might increase the risk of pancreatitis related to mutation-induced misfolding and consequent endoplasmic reticulum stress. The pathological role of these variants might be strengthened by their association with pancreatitis cohorts, but such information is scarce. Interestingly, the c.623G>C (p.G208A) variant has been reported only in Asian subjects: a 12-year-old Asian man with CP, a Korean child with recurrent pancreatitis and a 7-year-old Korean child with necrotising acute pancreatitis.2 ,3 We therefore conducted screening of the PRSS1 p.G208A variant in Japanese patients with CP. All of the exons and the flanking regions in …
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P. Hegyi,et al.
Functional effects of 13 rare PRSS1 variants presumed to cause chronic pancreatitis
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2013,
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A. Masamune,et al.
Identification of novel missense CTRC variants in Japanese patients with chronic pancreatitis
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2012,
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H. Yoo,et al.
High Incidence of PRSS1 and SPINK1 Mutations in Korean Children With Acute Recurrent and Chronic Pancreatitis
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2011,
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S. Keiles,et al.
Identification of CFTR, PRSS1, and SPINK1 Mutations in 381 Patients With Pancreatitis
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2006,
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