Genotype D399N/R463C in a patient with type 3 Gaucher disease previously assigned genotype N370S/R463C

Biochem Mol Med. 1996 Apr;57(2):149-51. doi: 10.1006/bmme.1996.0021.

Abstract

A patient with type 3 Gaucher disease is described with a novel genotype, D399N/R463C, established by DNA sequencing. This patient was previously reported as having genotype N370S/R463C. This communication now establishes that no patients reported with mutation N370S have the neuronopathic forms of Gaucher disease and has important implications for genetic counseling.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Base Sequence
  • DNA / blood
  • DNA Primers
  • Exons
  • Female
  • Gaucher Disease / classification
  • Gaucher Disease / genetics*
  • Gaucher Disease / pathology
  • Genetic Markers
  • Genotype
  • Glucosylceramidase / genetics*
  • Humans
  • Introns
  • Molecular Sequence Data
  • Point Mutation*
  • Polymerase Chain Reaction
  • Skin / pathology

Substances

  • DNA Primers
  • Genetic Markers
  • DNA
  • Glucosylceramidase