Homozygous GBA1 p.T82I variant in type 1 Gaucher disease: clinical and biochemical characterization.

Abstract excerpt

BACKGROUND: Gaucher disease (GD) is the most common lysosomal storage disorder caused by biallelic pathogenic variants in GBA1, resulting in deficient β-glucocerebrosidase activity. Clinical characterization of rare GBA1 variants is crucial for understanding disease heterogeneity. We report an extremely rare GBA1 variant previously catalogued at the sequence level in HGMD and UniProtKB, and recently listed in...

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