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Characterization of a novel alpha-mannosidosis-causing mutation and its use in leukocyte genotyping after bone marrow
H M Frostad Riise1, G M Hansen, O K Tollersrud
1Department of Medical Biochemistry, University of Tromsø, Norway. hildefr@fagmed.uit.no
Abstract:
Alpha-Mannosidosis is a lysosomal storage disorder caused by deficiency of lysosomal alpha-mannosidase (LAMAN). Major symptoms include mental retardation, skeletal changes and recurrent infections. Recently, a successful bone marrow transplantation (BMT) in an alpha-mannosidosis patient was reported. Here we show that this patient was homozygous for a novel mutation, a 1-bp insertion (1197-1198insA) in exon 9 of the LAMAN gene. By using this mutation as a marker, we demonstrate that 1 year post-BMT, the LAMAN genotype of the patient's leukocytes was identical to that of the donor. This method of genotyping blood cells is a fast and accurate way to monitor the colonization of donor bone marrow cells.