SAME BUT DIFFERENT: GAUCHER DISEASE Rare Cases of Gaucher in Two Siblings with the Same Genotype but Different Phenotype

Abstract Gaucher disease is a rare autosomal recessive lysosomal storage disease. More than 400 mutations have been identified. Although the disease has a genotype-phenotype relationship, the presence of cases with different phenotypes in the same genotype and phenotypic heterogeneity is noticeable. In this case report, we present 2 siblings with type 1 Gaucher disease carrying the same homozygous c.1226 A > G allele N370S (now called p.N409S) mutation with completely different phenotypes.