title: Hereditary pancreatitis caused by triplication of the trypsinogen locus.
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.
authors.affiliation: Institut National de la Santé et de la Recherche Médicale (INSERM), U613, 29220 Brest, France.
authors.forename: Cédric
authors.initials: C
authors.lastname: Le Maréchal
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Masson
authors.forename: Jian-Min
authors.initials: JM
authors.lastname: Chen
authors.forename: Frédéric
authors.initials: F
authors.lastname: Morel
authors.forename: Philippe
authors.initials: P
authors.lastname: Ruszniewski
authors.forename: Philippe
authors.initials: P
authors.lastname: Levy
authors.forename: Claude
authors.initials: C
authors.lastname: Férec
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D005260:Female; D018628:Gene Dosage; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D010195:Pancreatitis / Q000201:enzymology* / Q000235:genetics*; D010375:Pedigree; D014357:Trypsin; D014362:Trypsinogen / Q000235:genetics*
chemical_list: D014362:Trypsinogen; C489303:PRSS1 protein, human; D014357:Trypsin