Abstract
α-Mannosidosis is a lysosomal storage disorder caused by deficiency of lysosomal α-mannosidase (LAMAN). Major symptoms include mental retardation, skeletal changes and recurrent infections. Recently, a successful bone marrow transplantation (BMT) in an α-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.
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Received: 9 September 1998 / Accepted: 3 November 1998
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Frostad Riise, H., Martin Hansen, G., Tollersrud, O. et al. Characterization of a novel α-mannosidosis-causing mutation and its use in leukocyte genotyping after bone marrow transplantation. Hum Genet 104, 106–107 (1999). https://doi.org/10.1007/s004390050918
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DOI: https://doi.org/10.1007/s004390050918