A novel mutation of the β-glucocererebrosidase gene associated with neurologic manifestations in three sibs

Giancarlo Parenti, Mirella Filocamo, Luigi Titomanlio, Grazia Rizzolo, Eufrasia Silvestro, Anna Perretti, Rosanna Gatti, Generoso Andria

Research output: Contribution to journalArticlepeer-review

Abstract

We report on a sibship in which three members were affected by Gaucher disease. Molecular analysis of the patients showed homozygosity for a novel mutation (C5390G) of the β-glucocerebrosidase gene, resulting in the substitution of the arginine 353 with a glycine. Western blot analysis showed a reduced amount of β-glucocerebrosidase-related polypeptides in fibroblasts. The phenotype resulting from this mutation is characterized by visceral and skeletal manifestations. In addition, the presence of seizures and electrophysiological abnormalities only in the 3 patients and in none of the other unaffected sibs suggests that the mutation is responsible for neurologic involvement.

Original languageEnglish
Pages (from-to)281-285
Number of pages5
JournalClinical Genetics
Volume53
Issue number4
Publication statusPublished - Apr 1998

Keywords

  • β-glucocerebrosidase
  • Gaucher disease
  • Neurological involvement
  • New mutation

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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