A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity

• Published in: Human genetics Vol. 117; no. 2-3; pp. 275 - 277
• Main Authors: DIAZ-FONT, Anna, CORMAND, Bru, SANTAMARIA, Raül, VILAGELIU, Lluïsa, GRINBERG, Daniel, CHABAS, Amparo
• Format: Journal Article
• Language: English
• Published: Heidelberg Springer 01.07.2005; Berlin Springer Nature B.V; New York, NY
• Subjects: Biological and medical sciences; Brain - enzymology; Brain Chemistry - genetics; Classical genetics, quantitative genetics, hybrids; Enzymes; Errors of metabolism; Exons - genetics; Fundamental and applied biological sciences. Psychology; Gaucher Disease - enzymology; Gaucher Disease - genetics; Gene mutations; Genetic aspects; Genetics of eukaryotes. Biological and molecular evolution; Glucosylceramidase - genetics; Glucosylceramidase - metabolism; Human; Humans; Hydrolases; Lipids (lysosomal enzyme disorders, storage diseases); Medical sciences; Metabolic diseases; Point Mutation; RNA Stability - genetics; Saposins - genetics; Saposins - metabolism; Human; Nervous system diseases; Metabolic diseases; Lipids; Patient; Normal; Enzymopathy; Cerebral disorder; Genetic disease; Gaucher disease; Central nervous system disease; Genetics; Mutation; Lipoidosis
• ISSN: 0340-6717; 1432-1203
• DOI: 10.1007/s00439-005-1288-x

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.