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 (Cysl63Ser) 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 G 299 →A transition causing a Gly 100 → Gln substitution and a T 404 →C transition resulting in a Phe 135 →Ser change in the cDNA coding for aspartylglucosaminidase. The younger patient recently underwent bone marrow transplantation.