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Article

First phenotypic description of a female patient with c.610 T > C variant of GLA: a renal-predominant presentation of Fabry disease.

BMC medical genetics - 26 Jun 2020

Greillier Sophie, Daniel Laurent, Caillaud Catherine, Dussol Bertrand, Touchard Guy, Goujon Jean-Michel, Jourde-Chiche Noémie, Bobot Mickaël

Abstract excerpt

BACKGROUND: Fabry disease (FD) is an X-linked lysosomal storage disorder due to deficient alpha-galactosidase activity leading to intracellular glycosphingolipid accumulation. Multiple variants have been reported in the GLA gene coding for alpha-galactosidase, and the question of the pathogenicity of rare variants needs to be addressed, especially in patients with mild phenotypes. CASE PRESENTATION: The patient,...

Topics

Adult
Fabry Disease
Female
Humans
Kidney
Mutation
Phenotype
Podocytes
alpha-Galactosidase

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32590976
DOI: 10.1186/s12881-020-01071-5
PMCID: PMC7320597

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