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Article

Revisiting the diagnosis of Gaucher disease in a family with multiple GBA1 variants.

American journal of medical genetics. Part A - 1 Oct 2023

Ryan Emory, Tayebi Nahid, D'Souza Andrea, Lopez Grisel, Lichtenberg Jens, Sidransky Ellen

Abstract excerpt

Our ability to identify different variants in GBA1, the gene mutated in the lysosomal storage disorder Gaucher disease (GD), has greatly improved. We describe a multigenerational family with type 1 GD initially evaluated over three decades ago. Re-evaluating both the genotype and phenotype, we determined that one family member with genotype N370S/T369M (p.N409S/p.T408M), was likely erroneously diagnosed with GD....

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PMID: 37449546
DOI: 10.1002/ajmg.a.63345

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