A new glucocerebrosidase-gene missense mutation responsible for neuronopathic Gaucher disease in Japanese patients

H. Kawame, Y. Eto

Research output: Contribution to journalArticlepeer-review

27 Citations (Scopus)

Abstract

We have identified a new T-to-A single-base substitution at nucleotide 3548 (in the genomic sequence) in exon 6 in the glucocerebrosidase gene from a patient with Gaucher disease type 3. This mutation caused a substitution of isoleucine for phenylalanine at amino acid residue 213 (of 497 residues in the mature protein). By in vitro expression study in cultured mammalian cells, this mutation resulted in deficient activity of glucocerebrosidase. By allele-specific oligonucleotide hybridization of selectively PCR-amplified DNA from eight unrelated Japanese Gaucher disease patients, this mutant allele was observed in other neuronopathic Japanese Gaucher disease patients, in moderately frequent occurrence (three of six neuronopathic patients). This observation suggests that this allele was one of several alleles which were related to the development of neurological manifestations of Gaucher disease.

Original languageEnglish
Pages (from-to)1378-1380
Number of pages3
JournalAmerican Journal of Human Genetics
Volume49
Issue number6
Publication statusPublished - 1991 Dec 1
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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