title: The adult polyglucosan body disease mutation GBE1 c.1076A>C occurs at high frequency in persons of Ashkenazi Jewish background.
abstract: Mutations of the glycogen branching enzyme gene, GBE1, result in glycogen storage disease (GSD) type IV, an autosomal recessive disorder having multiple clinical forms. One mutant allele of this gene, GBE1 c.1076A>C, has been reported in Ashkenazi Jewish cases of an adult-onset form of GSD type IV, adult polyglucosan body disease (APBD), but no epidemiological analyses of this mutation have been performed. We report here the first epidemiological study of this mutation in persons of Ashkenazi Jewish background and find that this mutation has a gene frequency of 1 in 34.5 (95% CI: 0.0145-0.0512), similar to the frequency of the common mutation causing Tay-Sachs disease among Ashkenazi Jews. This finding reveals APBD to be another monogenic disorder that occurs with increased frequency in persons of Ashkenazi Jewish ancestry.
authors.affiliation: Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Canada.
authors.forename: Abrar
authors.initials: A
authors.lastname: Hussain
authors.forename: Joy
authors.initials: J
authors.lastname: Armistead
authors.forename: Lara
authors.initials: L
authors.lastname: Gushulak
authors.forename: Christa
authors.initials: C
authors.lastname: Kruck
authors.forename: Steven
authors.initials: S
authors.lastname: Pind
authors.forename: Barbara
authors.initials: B
authors.lastname: Triggs-Raine
authors.forename: Marvin R
authors.initials: MR
authors.lastname: Natowicz
mesh_terms: D005787:Gene Frequency; D006004:Glycogen Debranching Enzyme System / Q000235:genetics*; D006008:Glycogen Storage Disease / Q000235:genetics*; D006801:Humans; D007585:Jews / Q000235:genetics*; D009154:Mutation; D009422:Nervous System Diseases / Q000235:genetics*; D054820:beta-Hexosaminidase alpha Chain / Q000235:genetics
chemical_list: D006004:Glycogen Debranching Enzyme System; C577876:GBE1 protein, human; C518253:HEXA protein, human; D054820:beta-Hexosaminidase alpha Chain