Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation.
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.
Laitinen
A
A
Department of Medical Genetics, University of Turku, Finland.
Hietala
M
M
Haworth
J C
JC
Schroeder
M L
ML
Seargeant
L E
LE
Greenberg
C R
CR
Aula
P
P
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
C000009:N-acetylglucosaminylasparagine; D001227:Aspartylglucosylaminase; D000117:Acetylglucosamine