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 language | English |
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Pages (from-to) | 281-285 |
Number of pages | 5 |
Journal | Clinical Genetics |
Volume | 53 |
Issue number | 4 |
Publication status | Published - Apr 1998 |
Keywords
- β-glucocerebrosidase
- Gaucher disease
- Neurological involvement
- New mutation
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics