AI Article Synopsis
- Only two Gaucher disease patients with mutations in the prosaposin gene (PSAP) have been previously documented, without any mutations in the glucocerebrosidase gene (GBA).
- This study presents the identification of the second mutation in one of these patients, marking the first complete genotype for a SAP-C-deficient Gaucher disease case.
- The discovered mutation, p.Q430X, is the first identified in the saposin D domain and is likely to create a nonfunctional allele due to nonsense-mediated mRNA decay.
Article 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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