Characterization of a novel α-mannosidosis-causing mutation and its use in leukocyte genotyping after bone marrow transplantation

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...

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Bibliographic Details
Published in:Human genetics 1999-01, Vol.104 (1), p.106-107
Main Authors: RIISE, H. M. F, HANSEN, G. M, TOLLERSRUD, O. K, NILSSEN, Ø
Format: Article
Language:English
Subjects:
alpha-Mannosidase
alpha-Mannosidosis - enzymology
alpha-Mannosidosis - genetics
Biological and medical sciences
Bone Marrow Transplantation
Carbohydrates (enzymatic deficiencies). Glycogenosis
Errors of metabolism
Genetic Carrier Screening
Genotype
Humans
Leukocytes - enzymology
Mannosidases - deficiency
Mannosidases - genetics
Medical sciences
Metabolic diseases
Mutation - genetics
Polymerase Chain Reaction
Sequence Analysis, DNA
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Summary: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.
ISSN:0340-6717
1432-1203
DOI:10.1007/s004390050918