Types I and III Gaucher disease in Poland: incidence of the most common mutations and phenotypic manifestations

Abstract

Gaucher disease caused by hereditary deficiency of beta-glucocerebrosidase is the most prevalent lysosomal storage disease. The incidence of the 5 commonest mutations was estimated in the Polish Gaucher disease population. A trial to establish genotype/phenotype correlations was performed. A relatively high frequency of type III disease can be stated in the studied Polish Gaucher patients. The most frequent mutation was L444P, followed by the N370S mutation. A distinct correlation between genotype and phenotype was observed in the studied group of Polish patients with Gaucher disease.