Human beta-galactosidase gene mutations in morquio B disease

Am J Hum Genet. 1991 Nov;49(5):1091-3.


Three different beta-galactosidase gene mutations--a 273Trp----Leu (mutation F) in both families, 482Arg----His (mutation G) in one family, and 509Trp----Cys (mutation H) in the other family--were identified in three patients with Morquio B disease who were from two unrelated families. Restriction-site analysis using StuI, Nsp(7524)I or RsaI confirmed these mutations. In human fibroblasts, mutation F expressed as much as 8% of the normal allele's enzyme activity, but the other mutations expressed no detectable enzyme activity. We conclude that the unique clinical manifestations are specifically associated with mutation F, a common two-base substitution, in this disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Blotting, Northern
  • Cloning, Molecular
  • DNA Mutational Analysis
  • Genotype
  • Humans
  • Molecular Sequence Data
  • Mucopolysaccharidosis IV / enzymology
  • Mucopolysaccharidosis IV / genetics*
  • Mutation*
  • beta-Galactosidase / genetics*


  • beta-Galactosidase