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

ABSTRACT:

Background

The cationic trypsinogen (PRSS1) R122H mutation causes autosomal dominant hereditary pancreatitis (HP) with multiple attacks of acute pancreatitis, but the penetrance, frequency, and severity of attacks are highly variable. HP twins study suggests that modifier genes influence severity but not penetrance.

Aim

To investigate potential trypsin associated factors in subjects with the PRSS1 R122H mutation and phenotypic non-penetrance.

Methods

Two subjects from HP families (including a 93 year old subject with PRSS1 R122H without pancreatitis), one with chronic pancreatitis and one with a normal pancreas, were studied. Relative expression of: (a) the PRSS1 R122 and H122 alleles; and (b) the PRSS1 and SPINK1 genes in pancreatitis were determined using complement

SUBMITTER: Khalid A 

PROVIDER: S-EPMC1856140 | biostudies-literature | 2006 May

REPOSITORIES: biostudies-literature