A novel mutation of the beta-glucocerebrosidase gene associated with neurologic manifestations in three sibs.

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 beta-glucocerebrosidase gene, resulting in the substitution of the arginine 353 with a glycine. Western blot analysis showed a reduced amount of beta-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.

• Authors: G Parenti, M Filocamo, L Titomanlio, G Rizzolo, E Silvestro, A Perretti, R Gatti, G Andria
• Journal: Clinical genetics (Clin Genet) Vol. 53 Issue 4 Pg. 281-5 (Apr 1998) ISSN: 0009-9163 [Print] Denmark
• PMID: 9650766 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Arginine
• Glucosylceramidase
• Glycine

Topics

• Adult
• Arginine (genetics)
• Blotting, Western
• Cells, Cultured
• Female
• Gaucher Disease (enzymology, genetics, therapy)
• Glucosylceramidase (genetics)
• Glycine (genetics)
• Humans
• Male
• Pedigree
• Point Mutation
• Sequence Analysis, DNA