title: A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity.
abstract: Only two Gaucher disease (GD) patients bearing mutations in the prosaposin gene (PSAP), and not in the glucocerebrosidase gene (GBA), have been reported. In both cases, one mutant allele remained unidentified. We report here the identification of the second mutation in one of these patients, being the first complete genotype described so far in a SAP-C-deficient GD patient. This mutation, p.Q430X, is the first one reported in the saposin D domain and probably produces a null allele by nonsense mediated mRNA decay.
authors.affiliation: Departament de Genètica, Facultat de Biología, Universitat de Barcelona, Av. Diagonal 645, 08028 Barcelona, Spain.
authors.forename: Anna
authors.initials: A
authors.lastname: Diaz-Font
authors.forename: Bru
authors.initials: B
authors.lastname: Cormand
authors.forename: Raül
authors.initials: R
authors.lastname: Santamaria
authors.forename: Lluïsa
authors.initials: L
authors.lastname: Vilageliu
authors.forename: Daniel
authors.initials: D
authors.lastname: Grinberg
authors.forename: Amparo
authors.initials: A
authors.lastname: Chabás
mesh_terms: D001921:Brain / Q000201:enzymology; D001923:Brain Chemistry / Q000235:genetics; D005091:Exons / Q000235:genetics; D005776:Gaucher Disease / Q000201:enzymology / Q000235:genetics*; D005962:Glucosylceramidase / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D017354:Point Mutation; D020871:RNA Stability / Q000235:genetics*; D049231:Saposins / Q000235:genetics* / Q000378:metabolism
chemical_list: C483345:PSAP protein, human; D049231:Saposins; D005962:Glucosylceramidase