2 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 cas es of AGU which have been analyzed at molecular level have revealed a spectrum of different mutations. Here, we report two new missense muta tions causing AGU in two Canadian siblings. The patients were compound heterozygotes with a G(299)-->A transition causing a Gly(100)-->Gln s ubstitution and a T-404-->C transition resulting in a Phe(135)-->Ser c hange in the cDNA coding for aspartylglucosaminidase. The younger pati ent recently underwent bone marrow transplantation.