A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity.
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.
Diaz-Font
Anna
A
Departament de Genètica, Facultat de Biología, Universitat de Barcelona, Av. Diagonal 645, 08028 Barcelona, Spain.
Cormand
Bru
B
Santamaria
Raül
R
Vilageliu
Lluïsa
L
Grinberg
Daniel
D
Chabás
Amparo
A
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
C483345:PSAP protein, human; D049231:Saposins; D005962:Glucosylceramidase