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

Hum Genet. 1999 Jan;104(1):106-7. doi: 10.1007/s004390050918.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bone Marrow Transplantation*
  • Genetic Carrier Screening
  • Genotype
  • Humans
  • Leukocytes / enzymology*
  • Mannosidases / deficiency*
  • Mannosidases / genetics*
  • Mutation / genetics*
  • Polymerase Chain Reaction
  • Sequence Analysis, DNA
  • alpha-Mannosidase
  • alpha-Mannosidosis / enzymology*
  • alpha-Mannosidosis / genetics*


  • Mannosidases
  • alpha-Mannosidase