Hereditary pancreatitis caused by triplication of the trypsinogen locus |
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Authors: | Le Maréchal Cédric Masson Emmanuelle Chen Jian-Min Morel Frédéric Ruszniewski Philippe Levy Philippe Férec Claude |
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Institution: | Institut National de la Santé et de la Recherche Médicale (INSERM), U613, 29220 Brest, France. |
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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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