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

N Tayebi; J Herman; E I Ginns; E Sidransky

doi:10.1006/bmme.1996.0021

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.

Authors

N Tayebi¹, J Herman, E I Ginns, E Sidransky

Affiliation

¹ Clinical Neuroscience Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland 20892, USA.

PMID: 8733893
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