Identification of six new Gaucher disease mutations

Genomics. 1993 Jan;15(1):203-5. doi: 10.1006/geno.1993.1035.


The four most common mutations account for 97% of the Gaucher disease-producing alleles in Jewish patients and 75% of the alleles in non-Jewish patients. Although at least 15 other mutations and some examples of gene conversion and/or fusion genes have been described, a number of mutations remain unidentified. We have now identified six new mutations, a deletion of a C at the 72 position of the cDNA, a 481C-->T mutation (122Pro-->Ser), a 751T-->C (212Tyr-->His), a 1549G-->A (478Gly-->Ser), a 1604G-->A (496Arg-->His), and a 55-bp deletion. All but one of these were found in single families. The 1604A mutation, however, was observed in four unrelated individuals.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Base Sequence
  • Child
  • Child, Preschool
  • DNA
  • DNA Mutational Analysis
  • Gaucher Disease / ethnology
  • Gaucher Disease / genetics*
  • Glucosylceramidase / genetics
  • Humans
  • Jews / genetics
  • Molecular Sequence Data
  • Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Genetic


  • DNA
  • Glucosylceramidase