title: Gaucher disease in Spanish patients: analysis of eight mutations.
abstract: Gaucher disease is particularly prevalent among Ashkenazi Jews; thus most studies have been reported on this ethnic group. We present the first data on Spanish patients with Gaucher disease and provide one of the first reports on a fairly well defined, large, non-Jewish population. Eight mutations were analyzed in 35 patients, with different clinical subtypes, by restriction enzyme digestion or allele-specific oligonucleotide (ASO) hybridization, after PCR amplification of genomic DNA. Analysis of the eight mutations allowed identification of 77.2% of the disease alleles, N370S and L444P alone accounting for 70%. Mutation N370S, carried by 31 alleles (44.3%), appeared to be the most prevalent in the Spanish population. The frequency of this mutation and of the N370S/N370S genotype is closer to those described for Ashkenazi Jews than to the frequencies found in other non-Jewish populations. Mutation L444P, the second most abundant mutation, occurred in 25.7% of the disease alleles. Four alleles carrying mutation D409H (5.7%) were detected in patients of different clinical expression and one RecNciI allele in a type I patient. Mutations 84GG, IVS2 + 1, R463C, and RecTL were also screened but were not found in any of our patients.
authors.affiliation: Department de Genètica, Facultat de Biologia, Universitat de Barcelona, Spain.
authors.forename: B
authors.initials: B
authors.lastname: Cormand
authors.forename: L
authors.initials: L
authors.lastname: Vilageliu
authors.forename: J M
authors.initials: JM
authors.lastname: Burguera
authors.forename: S
authors.initials: S
authors.lastname: Balcells
authors.forename: R
authors.initials: R
authors.lastname: Gonzàlez-Duarte
authors.forename: D
authors.initials: D
authors.lastname: Grinberg
authors.forename: A
authors.initials: A
authors.lastname: Chabás
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005776:Gaucher Disease / Q000145:classification / Q000235:genetics* / Q000473:pathology; D005838:Genotype; D006801:Humans; D007223:Infant; D008875:Middle Aged; D009154:Mutation; D013030:Spain