ArticleOrphanet journal of rare diseases2016
Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.
Article in Orphanet journal of rare diseases, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 1 of them a synthesis that pooled it.
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Who cites it
38 citing papers in PubMed, 1 synthesis or guideline pooled it, 64 citations in OpenAlex.
- The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations.International journal of molecular sciences · 2016Pooled it
- NovelJournal of clinical medicine · 2026Review
- Bridging Biochemical and Clinical Disease Burden in Fabry Disease: A Comparative Analysis of Lyso-Gb3, MSSI, DS3, and FASTEX.International journal of molecular sciences · 2026Observational
- Could Fabry Disease Cause Giant Coronary Aneurysms in a 7-Month-Old Infant: A Case Report.Clinical case reports · 2026Article
- Intraepidermal nerve fiber density as a predictor of cardiac events in Fabry disease.European heart journal open · 2026Article
- Lyso-Gb3 in a Fabry pediatric cohort diagnosed by newborn screening.Genetics in medicine open · 2026Article
- NF-κB p65 iso5 Δ6/7 and p65 iso5 Δ10 isoforms drive immune-inflammatory remodeling in Fabry disease andFrontiers in immunology · 2026Article
- Article
- Misprocessing of α -Galactosidase A, Endoplasmic Reticulum Stress, and the Unfolded Protein Response.Journal of the American Society of Nephrology : JASN · 2025Article
- Identification of Four New Mutations in the GLA Gene Associated with Anderson-Fabry Disease.International journal of molecular sciences · 2025Article
- Screening for Fabry Disease-Related Mutations Among 829 Kidney Transplant Recipients.Journal of clinical medicine · 2024Article
- Septal Myectomy in Patients with Hypertrophic Cardiomyopathy and Nonclassical Anderson-Fabry Disease.Journal of cardiovascular development and disease · 2024Article
- Newborn Screening for Fabry Disease: Current Status of Knowledge.International journal of neonatal screening · 2023Review
- The prevalence of Fabry disease in a Turkish population with chronic kidney patients.International urology and nephrology · 2023Article
- X-chromosomal inactivation patterns in women with Fabry disease.Molecular genetics & genomic medicine · 2022Article
- Fabry Disease in Slovakia: How the Situation Has Changed over 20 Years of Treatment.Journal of personalized medicine · 2022Article
- The prevalence of Fabry disease among 1009 unrelated patients with hypertrophic cardiomyopathy: a Russian nationwide screening program using NGS technology.Orphanet journal of rare diseases · 2022Article
- Gene variants of unknown significance in Fabry disease: Clinical characteristics of c.376A>G (p.Ser126Gly).Molecular genetics & genomic medicine · 2022Article
- Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease.Clinical genetics · 2022Review
- Clinical Characteristics, Renal Involvement, and Therapeutic Options of Pediatric Patients With Fabry Disease.Frontiers in pediatrics · 2022Review
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Authors and funding
13 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFabry disease (FD) is an X-linked multisystemic disorder with a heterogeneous phenotype. Especially atypical or late-onset type 2 phenotypes present a therapeutical dilemma.
methodsTo determine the clinical impact of the alpha-Galactosidase A (GLA) p.A143T/ c.427G > A variation, we retrospectively analyzed 25 p.A143T patients in comparison to 58 FD patients with other missense mutations.
resultsp.A143T patients suffering from stroke/ transient ischemic attacks had slightly decreased residual GLA activities, and/or increased lyso-Gb3 levels, suspecting FD. However, most male p.A143T patients presented with significant residual GLA activity (~50 % of reference), which was associated with normal lyso-Gb3 levels. Additionally, p.A143T patients showed less severe FD-typical symptoms and absent FD-typical renal and cardiac involvement in comparison to FD patients with other missense mutations. Two tested female p.A143T patients with stroke/TIA did not show skewed X chromosome inactivation. No accumulation of neurologic events in family members of p.A143T patients with stroke/transient ischemic attacks was observed.
conclusionsWe conclude that GLA p.A143T seems to be most likely a neutral variant or a possible modifier instead of a disease-causing mutation. Therefore, we suggest that p.A143T patients with stroke/transient ischemic attacks of unknown etiology should be further evaluated, since the diagnosis of FD is not probable and subsequent ERT or chaperone treatment should not be an unreflected option.
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