Analysis of the ß-glucocerebrosidase gene in Turkish Gaucher disease patients: Mutation profile and description of a novel mutant allele

Karaca E.Kalkan S.Onay H.Aykut A.Coker M.Özkınay F.2019-10-272019-10-2720120334-018Xhttps://doi.org/10.1515/jpem-2012-0155https://hdl.handle.net/11454/26613Gaucher disease (GD) is the most frequent autosomal recessive lysosomal glycolipid storage disorder characterized by a decreased lysosomal activity of the enzyme ß-glucocerebrosidase (GBA; EC 3.2.1.45). The aim of this study was to evaluate the spectrum of the GBA gene mutations in Turkish GD patients and to explore genotype/phenotype associations. The molecular characterization of 32 unrelated Turkish GD patients with three types of the disease was defined. Mutation analysis identified 96.9 % of the GD alleles. The N370S mutation had the highest prevalence (50 % ) followed by the L444P (35.5 % ) alleles. We identified a novel L385R missense mutation that is associated with type 1 GD.en10.1515/jpem-2012-0155info:eu-repo/semantics/closedAccessß-glucocerebrosidase geneGaucher diseaseTurkish populationAnalysis of the ß-glucocerebrosidase gene in Turkish Gaucher disease patients: Mutation profile and description of a novel mutant alleleArticle2509.Oct95796223426826Q2