The c.‐<scp>265G</scp>>A <i>GLA</i> gene promoter variant causes Fabry disease: The hidden culprit identified-Reference-Cited by-同舟云学术

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

Published:2024-07-18 Issue: Volume: Page:
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Zampieri Stefania¹,Cattarossi Silvia¹,Ferri Lorenzo²,Graziano Claudio³,Santostefano Marisa⁴,Morrone Amelia²⁵,Dardis Andrea¹

Affiliation:

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

Abstract

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

Funder

Regione Toscana

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14591

Reference4 articles.

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3. Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene;Ferri L;Clin Genet,2012

4. Unexplored regulatory sequences of divergently paired GLA and HNRNPH2 loci pertinent to Fabry disease in human kidney and skin cells: presence of an active bidirectional promoter;Al‐Obaide MAI;Exp Ther Med,2021