Clinical Genetics 1997-03-01

Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation.

A Laitinen, M Hietala, J C Haworth, M L Schroeder, L E Seargeant, C R Greenberg, P Aula

文献索引：Clin. Genet. 51(3) , 174-8, (1997)

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摘要

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.