title: Analysis of the β-glucocerebrosidase gene in Turkish Gaucher disease patients: mutation profile and description of a novel mutant allele.
abstract: Gaucher disease (GD) is the most frequent autosomal recessive lysosomal glycolipid storage disorder characterized by a decreased lysosomal activity of the enzyme β-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.
authors: Department of Medical Genetics, Ege University Faculty of Medicine, Bornova-Izmir, Turkey. karacaemin@gmail.com
authors: Emin
authors: E
authors: Karaca
authors: Sema
authors: S
authors: Kalkan
authors: Huseyin
authors: H
authors: Onay
authors: Ayca
authors: A
authors: Aykut
authors: Mahmut
authors: M
authors: Coker
authors: Ferda
authors: F
authors: Ozkinay
mesh_terms: D000328:Adult; D000483:Alleles; D005260:Female; D005776:Gaucher Disease / Q000235:genetics*; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D014421:Turkey
chemical_list: D005962:Glucosylceramidase