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Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation
Author(s) -
Laitinen Arja,
Hietala Marja,
Haworth James C.,
Schroeder Marlis L,
Seargeant Lome E.,
Greenberg Cheryl R.,
Aula Pertti
Publication year - 1997
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1997.tb02448.x
Subject(s) - missense mutation , bone marrow transplantation , mutation , transplantation , bone marrow , heterozygote advantage , genetics , disease , compound heterozygosity , population , biology , medicine , cancer research , gene , genotype , environmental health
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 alkies. 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 → Gin 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.