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Hereditary pancreatitis caused by triplication of the trypsinogen locus
Cédric Le Maréchal1, Emmanuelle Masson, Jian-Min Chen
1Institut National de la Santé et de la Recherche Médicale (INSERM), U613, 29220 Brest, France.
Abstract:
Hereditary pancreatitis has been reported to be caused by 'gain-of-function' missense mutations in the cationic trypsinogen gene (PRSS1). Here we report the triplication of a approximately 605-kb segment containing the PRSS1 gene on chromosome 7 in five families with hereditary pancreatitis. This triplication, which seems to result in a gain of trypsin through a gene dosage effect, represents a previously unknown molecular mechanism causing hereditary pancreatitis.
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