The c.-265G>A GLA gene promoter variant causes Fabry disease: The hidden culprit identified

Stefania Zampieri; Silvia Cattarossi; Lorenzo Ferri; Claudio Graziano; Marisa Santostefano; Amelia Morrone; Andrea Dardis

doi:10.1111/cge.14591

The c.-265G>A GLA gene promoter variant causes Fabry disease: The hidden culprit identified

Clin Genet. 2024 Nov;106(5):661-663. doi: 10.1111/cge.14591. Epub 2024 Jul 18.

Authors

Stefania Zampieri¹, Silvia Cattarossi¹, Lorenzo Ferri², Claudio Graziano³, Marisa Santostefano⁴, Amelia Morrone^{2

5}, Andrea Dardis¹

Affiliations

¹ Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, Udine, Italy.
² Laboratory of Molecular Biology of Neurometabolic Diseases, Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.
³ Medical Genetics Unit, AUSL Romagna, Ravenna, Italy.
⁴ Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy.
⁵ Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy.

PMID: 39023102
DOI: 10.1111/cge.14591

Abstract

Here, we report the identification and functional characterization of a novel GLA variant, not detectable by routine molecular tests, in a family with FD suspicion.

Keywords: Fabry; GLA; mutations; promoter.

Publication types

Letter
Case Reports

MeSH terms

Adult
Fabry Disease* / diagnosis
Fabry Disease* / genetics
Female
Genetic Predisposition to Disease
Humans
Male
Middle Aged
Mutation / genetics
Pedigree*
Promoter Regions, Genetic* / genetics
alpha-Galactosidase* / genetics

Substances

alpha-Galactosidase
GLA protein, human

Grants and funding

20228S5LWY/Regione Toscana