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Seamas C Donnelly, Novel functional mutations of the galactosidase alpha (GLA) gene in Fabry disease, QJM: An International Journal of Medicine, Volume 117, Issue 8, August 2024, Page 551, https://doi.org/10.1093/qjmed/hcae151
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The QJM has highlighted in recent issues rare diseases from both a clinical and genetic perspective.1–5 We continue this focus in the current issue where we publish works both on the identification and characterization of a novel functional mutation in the galactosidase alpha (GLA) gene in Fabry disease (FD) by Dr Gao and colleagues from Zhejiang University School of Medicine, China and efficacy of treatment of Kimura’s Disease.
FD is a rare X-linked disease caused by mutations in the GLA gene. In this work the authors identified further unique mutations in this gene in FD. Clinical examination of the patient demonstrated classical FD, such as neuropathic pain, gastrointestinal disorders, deficiency of a-Gal A activity and accumulation of Lyso-Gb-3.
This novel mutation is located on the N-terminal region, leading to a truncation of the protein and remaining only 24 amino acids. The a-Gal A activity of the patient-specific iPSC was significantly lower (60%) than that of normal iPSCs derived from healthy donors. We recommend this article to our readers.
