Two novel mutations in the gene for human alpha-mannosidase that cause alpha-mannosidosis

J Inherit Metab Dis. 2003;26(8):819-20. doi: 10.1023/b:boli.0000010006.87571.48.


Mutation analysis performed on two Italian patients with alpha-mannosidosis allowed the identification of two new mutations, IVS20-2A>G and 322-323insA. The patients were both homozygous for these mutations. The first mutation causes skipping of exon 21, whereas the second causes a frameshift introducing a stop codon at position 160 of the amino acid sequence.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Humans
  • Mutation*
  • alpha-Mannosidase / genetics*
  • alpha-Mannosidosis / etiology
  • alpha-Mannosidosis / genetics*


  • alpha-Mannosidase