Genotype-phenotype correlations in Filipino patients with type 3 gaucher disease

ABSTRACT

Gaucher disease is an inherited glycolipid storage disorder caused by a deficiency of the lysosomal enzyme glucocerebrosidase. Clinical manifestations include hepatosplenomegaly, skeletal abnormalities, anemia and thrombocytopenia. We present here the corresponding genotypes and the genotype-phenotype correlations of 3 Filipino patients. Clinical phenotypes and genotypes were documented by reviewing the charts of 3 Filipino patients with Gaucher disease. Clinical parameters such as liver and spleen sizes, hematologic variables, disease types and response to enzyme replacement therapy were compared. Likewise, quantitative enzyme assays and mutation analysis were reviewed. All have the type III neuronopathic Gaucher disease. Patients 1 and 2 are twin sisters who both have mild mental retardation with Patient 1 having a concomitant seizure disorder. They have the corresponding genotype of p.L444/p.P319A. Patient 3 has global developmental delay, oculomotor apraxia, pyramidal tract signs and carries the p.L444P/p.G202R/p.G202R genotype. Genotype-phenotype correlations for the 3 patients showed that their genotypes are compatible with the severe neuronopathic type of disease.