الفهرس 
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Abstract
Gaucher disease (GD) is a panethnic autosomal recessive sphingolipidosis caused by a deficiency of the lysosomal hydrolase acid β-glucosidase (glucocerebrosidase). Nearly 200 mutations have been identified in GBA from GD patients. They represent a spectrum of missense, non-sense, splice junction, deletion, insertion, and recombination errors. Many authors stated that genotype-phenotype correlations in GD are imperfect, however, some studies showed few suggestions which could be cautiously applied in some but not all populations. This study aimed to describe mutation analysis in some of the Egyptian patients with GD to illustrate the different mutations frequency in this population and to determine genotype-phenotype correlation in these patients. This study included 17 patients with Gaucher disease. Fifteen of our patients received ERT for 2.48 ± 2.18 years. The dose of ERT was 60 U/kg/2 weeks. The patients were subgrouped into 2 groups: group 1 (non-neuronopathic): included 13 patients, group 2 (neuronopathic): included 4 patients (2 patients with type II Gaucher disease and 2 with type III Gaucher disease). All patients were subjected to collection of data including history, data of initial presentation, evaluation of the response to ERT, and DNA sequence analysis of exons 9 and 10 of GBA gene to detect GBA gene mutations was done. We concluded that growth retardation, hepatosplenomegaly, and anemia are the most common features in Egyptian GD patients. Height rather than weight in addition to hemoglobin levels are good parameters for evaluation of the response of Gaucher patients to ERT. L444P was the most frequent allele in our patients followed by recombinant alleles. Novel mutations in GD patients are continuously discovered adding more mutations to this expanding panel. There is incomplete correlation between genotypes and various phenotypes in the Egyptian GD patients included in this study.