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.
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Acknowledgements
We thank R. Rycroft for revising the English. This research was supported by CICYT (SAF 2000–0200 and SAF 2003–00386) and FIS (Redes Temáticas, G03/054 REDEMETH).
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Diaz-Font, A., Cormand, B., Santamaria, R. et al. A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity. Hum Genet 117, 275–277 (2005). https://doi.org/10.1007/s00439-005-1288-x
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DOI: https://doi.org/10.1007/s00439-005-1288-x