title: Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation.
abstract: Aspartylglucosaminuria (AGU) is a lysosomal storage disease caused by deficiency of aspartylglucosaminidase. The disease is overrepresented in the Finnish population, in which one missense mutation (Cys163Ser) is responsible for 98% of the disease alleles. The few non-Finnish cases of AGU which have been analyzed at molecular level have revealed a spectrum of different mutations. Here, we report two new missense mutations causing AGU in two Canadian siblings. The patients were compound heterozygotes with a G299-->A transition causing a Gly100-->Gln substitution and a T404-->C transition resulting in a Phe135-->Ser change in the cDNA coding for aspartylglucosaminidase. The younger patient recently underwent bone marrow transplantation.
authors.affiliation: Department of Medical Genetics, University of Turku, Finland.
authors.forename: A
authors.initials: A
authors.lastname: Laitinen
authors.forename: M
authors.initials: M
authors.lastname: Hietala
authors.forename: J C
authors.initials: JC
authors.lastname: Haworth
authors.forename: M L
authors.initials: ML
authors.lastname: Schroeder
authors.forename: L E
authors.initials: LE
authors.lastname: Seargeant
authors.forename: C R
authors.initials: CR
authors.lastname: Greenberg
authors.forename: P
authors.initials: P
authors.lastname: Aula
mesh_terms: D000117:Acetylglucosamine / Q000031:analogs & derivatives* / Q000652:urine; D054880:Aspartylglucosaminuria; D001227:Aspartylglucosylaminase / Q000235:genetics*; D016026:Bone Marrow Transplantation / Q000379:methods*; D002170:Canada; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D016464:Lysosomal Storage Diseases / Q000235:genetics* / Q000628:therapy / Q000652:urine; D010375:Pedigree; D017354:Point Mutation; D017422:Sequence Analysis, DNA
chemical_list: C000009:N-acetylglucosaminylasparagine; D001227:Aspartylglucosylaminase; D000117:Acetylglucosamine