title: Genetic and clinical features of patients with Gaucher disease in Hungary.
abstract: The aim of this study was to identify mutations in the gene encoding for lysosomal beta-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.
authors: Department of Infectious and Pediatric Immunology, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary.
authors: Melinda
authors: M
authors: Erdos
authors: Katerina
authors: K
authors: Hodanova
authors: Szilvia
authors: S
authors: Taskó
authors: Anita
authors: A
authors: Palicz
authors: Larisa
authors: L
authors: Stolnaja
authors: Lenka
authors: L
authors: Dvorakova
authors: Martin
authors: M
authors: Hrebicek
authors: László
authors: L
authors: Maródi
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D001483:Base Sequence; D002675:Child, Preschool; D005260:Female; D005776:Gaucher Disease / Q000235:genetics*; D005962:Glucosylceramidase / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D006814:Hungary; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010641:Phenotype; D017384:Sequence Deletion; D044465:White People
chemical_list: D005962:Glucosylceramidase