title: Spectrum of GBA mutations in patients with Gaucher disease from Slovakia: identification of five novel mutations.
abstract: BACKGROUND
  Gaucher disease is the most common lysosomal storage disorder and is caused by a deficiency of the enzyme glucocerebrosidase. Enzyme deficiency leads to the accumulation of undegraded substrates, mainly in cells of the monocyte/ macrophage lineage, which is responsible for the clinical manifestations of the disease. To date, no study has attempted to identify the mutation spectrum of the glucocerebrosidase gene (GBA) in Slovak patients
  
  
  OBJECTIVE
  To identify mutations in 14 Slovak patients with confirmed glucocerebrosidase deficiency.
  
  
  METHODS
  Using molecular genetics methods PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) and direct sequencing of coding region GBA we identified the spectrum of mutations in our patients.
  
  
  RESULTS
  Five mutations (N370S, L444P, G377S, D409H and RecNciI) accounted for 75% of the mutant alleles. The remaining 25% were rare and probably individual mutations.
  
  
  CONCLUSIONS
  The mutational spectrum in our patients is similar to that observed in other European countries and corresponds to a Caucasian population, with N370S, L444P, RecNciI being the most common. Interestingly, mutation G377S was more frequent in our patients as compared to other published data. The C4W, L96P, H311N, 745delG and 1127_1128delTT mutations are described here for the first time in Gaucher disease, contributing to the panel of published GBA mutations.
authors.forename: Slavomíra
authors.initials: S
authors.lastname: Mattošová
authors.forename: Ján
authors.initials: J
authors.lastname: Chandoga
authors.forename: Anna
authors.initials: A
authors.lastname: Hlavatá
authors.forename: Jana
authors.initials: J
authors.lastname: Saligová
authors.forename: Danka
authors.initials: D
authors.lastname: Maceková
mesh_terms: D005260:Female; D005776:Gaucher Disease / Q000453:epidemiology / Q000235:genetics; D056726:Genetic Association Studies; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D018154:Slovakia / Q000453:epidemiology
chemical_list: D005962:Glucosylceramidase