Journal
NATURE GENETICS
Volume 38, Issue 12, Pages 1372-1374Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng1904
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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 similar to 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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