Genetic and clinical features of patients with Gaucher disease in Hungary

Melinda Erdos, Katerina Hodanova, Szilvia Taskó, Anita Palicz, Larisa Stolnaja, Lenka Dvorakova, Martin Hrebicek, László Maródi

Research output: Contribution to journalArticle

15 Citations (Scopus)

Abstract

The aim of this study was to identify mutations in the gene encoding for lysosomal β-glucocerebrosidase (GBA; gene symbol, GBA) in Hungarian patients with Gaucher disease (GD), and to study genotype-phenotype relationships. Genotypes and allele variations in 27 patients with type I GD of 25 unrelated families were studied. Of the 54 mutant alleles, we detected 38 frequent (N370S, 22/54; RecNciI, 8/54; L444P, 8/54) and 9 rare (N188S, R257Q, R285C, G377S, R120W, T323I, 84GG, 1263-1317del and 1263-1317del/RecTL) mutations. In addition, we identified two novel mutations. The N370S/RecNciI genotype found in 8 patients and the N370S/L444P genotype found in 5 patients were the most frequent genotypes in this cohort. In 22 patients the mutations occurred in heterozygosity with the N370S sequence variant, and one patient was homozygous for the L444P mutation. These data suggest that N370S, RecNciI, and L444P are the most prevalent mutations in Hungarian patients with GD. This mutation profile is characteristic for a Caucasian (non-Jewish) population. The c.260G>A and c.999G>A missense mutations are described here for the first time in GD patients contributing to the panel of reported GBA mutations.

Original languageEnglish
Pages (from-to)119-123
Number of pages5
JournalBlood Cells, Molecules, and Diseases
Volume39
Issue number1
DOIs
Publication statusPublished - Jul 1 2007

Keywords

  • GBA gene
  • Gaucher disease
  • β-glucocerebrosidase

ASJC Scopus subject areas

  • Molecular Medicine
  • Molecular Biology
  • Hematology
  • Cell Biology

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