Medline ® Abstract for Reference 26
of 'Hereditary pancreatitis'
Hereditary pancreatitis caused by triplication of the trypsinogen locus.
Le Maréchal C, Masson E, Chen JM, Morel F, Ruszniewski P, Levy P, Férec C
Nat Genet. 2006 Dec;38(12):1372-4. Epub 2006 Oct 29.
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.
Institut National de la Santéet de la Recherche Médicale (INSERM), U613, 29220 Brest, France.