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 t...
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Published in | Human genetics Vol. 117; no. 2-3; pp. 275 - 277 |
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Main Authors | , , , , , |
Format | Journal Article |
Language | English |
Published |
Heidelberg
Springer
01.07.2005
Berlin Springer Nature B.V New York, NY |
Subjects | |
Online Access | Get full text |
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Summary: | 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. |
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Bibliography: | ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-1 content type line 23 ObjectType-Case Study-2 ObjectType-Feature-4 ObjectType-Report-1 ObjectType-Article-3 |
ISSN: | 0340-6717 1432-1203 |
DOI: | 10.1007/s00439-005-1288-x |