A 93 year old man with the <i>PRSS1</i> R122H mutation, low <i>SPINK1</i> expression, and no pancreatitis: insights into phenotypic non-penetrance

Abstract

Attacks of acute pancreatitis in HP subjects appear to be independent of the relative expression of the mutant PRSS1 H122 allele or SPINK1 gene expression. The marked increase in SPINK1 gene expression with inflammation is consistent with its regulation as an acute phase protein.