Molecular analysis in two beta-mannosidosis patients: description of a new adult case

Mol Genet Metab. 2006 Dec;89(4):398-400. doi: 10.1016/j.ymgme.2006.07.001. Epub 2006 Aug 14.


beta-Mannosidosis is a lysosomal storage disorder caused by deficiency of beta-mannosidase. Thirteen families with cases of beta-mannosidosis have been described including one case previously reported by our group. We present clinical and biochemical data in a new adult case, and the molecular analyses in both this new case and the one previously reported. We detected four novel mutations: p.R182W, p.G392E, p.W466X and c.1848delA. Discrepancies between genomic DNA and cDNA results when detecting this last deletion suggested a nonsense-mediated decay cell process (NMD).

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amino Acid Substitution
  • DNA Mutational Analysis
  • DNA, Complementary / genetics
  • Female
  • Humans
  • Mutation
  • RNA Stability*
  • beta-Mannosidase / genetics*
  • beta-Mannosidosis / diagnosis
  • beta-Mannosidosis / genetics*


  • DNA, Complementary
  • beta-Mannosidase