SynthesisInternational journal of molecular sciences2021
X Chromosome Inactivation in Carriers of Fabry Disease: Review and Meta-Analysis.
Synthesis in International journal of molecular sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed.
- Review
- From inactivation to intervention: X chromosome silencing in disease pathogenesis and emerging therapeutic strategies.Genes & diseases · 2026Review
- Fabry Disease Diagnosed With Lung Nodule: A Unique Presentation in a Young Female Patient.Cureus · 2026Article
- Novel GLA variant in Fabry cardiomyopathy: evidence of pathogenicity and amenability to migalastat.Open heart · 2026Article
- Human α-galactosidase A is stimulated by folic acid supplementation - possible implications in Fabry disease management.PloS one · 2026Article
- Pathogenic mechanisms in Fabry disease.Frontiers in medicine · 2026Review
- Expert consensus on the combined screening of genes and biomarkers for neonatal diseases.World journal of pediatrics : WJP · 2026Review
- Pathogenicity of novel GLA gene missense mutations in Fabry disease and the therapeutic impact of migalastat.Journal of advanced research · 2026Article
- Correlation of enzyme activities and genotype with clinical manifestations in Chinese patients of different sexes with classical and late-onset Fabry disease.Frontiers of medicine · 2025Article
- Females with X-Linked Muscle Disorders: an underestimated patient population.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2025Review
- Changes in peak oxygen consumption in Fabry disease and associations with cardiomyopathy severity.Heart (British Cardiac Society) · 2025Observational
- Females with Fabry disease: an expert opinion on diagnosis, clinical management, current challenges and unmet needs.Frontiers in cardiovascular medicine · 2025Review
- Advances in Diagnosis and Treatment of Inherited Kidney Diseases in Children.Kidney diseases (Basel, Switzerland) · 2024Review
- Diagnosis of Fabry Disease Using Alpha-Galactosidase A Activity or LysoGb3 in Blood Fails to Identify Up to Two Thirds of Female Patients.International journal of molecular sciences · 2024Article
- Screening and diagnosis of Fabry disease in chronic kidney disease: the important role of globotriaosylsphingosine.Kidney research and clinical practice · 2024Article
- Fatigue as hallmark of Fabry disease: role of bioenergetic alterations.Frontiers in cardiovascular medicine · 2024Review
- Fabry Disease in Women: Genetic Basis, Available Biomarkers, and Clinical Manifestations.Genes · 2023Review
- Low skeletal muscle mass as an early sign in children with fabry disease.Orphanet journal of rare diseases · 2023Article
- Identification of a Novel Frameshift Variant ofJournal of clinical medicine · 2023Article
- Association of Fabry Disease with Hearing Loss, Tinnitus, and Sudden Hearing Loss: A Nationwide Population-Based Study.Journal of clinical medicine · 2022Article
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2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Anderson-Fabry disease is an X-linked inborn error of glycosphingolipid catabolism caused by a deficiency of α-galactosidase A. The incidence ranges between 1: 40,000 and 1:117,000 of live male births. In Italy, an estimate of incidence is available only for the north-western Italy, where it is of approximately 1:4000. Clinical symptoms include angiokeratomas, corneal dystrophy, and neurological, cardiac and kidney involvement. The prevalence of symptomatic female carriers is about 70%, and in some cases, they can exhibit a severe phenotype. Previous studies suggest a correlation between skewed X chromosome inactivation and symptoms in carriers of X-linked disease, including Fabry disease. In this review, we briefly summarize the disease, focusing on the clinical symptoms of carriers and analysis of the studies so far published in regards to X chromosome inactivation pattern, and manifesting Fabry carriers. Out of 151 records identified, only five reported the correlation between the analysis of XCI in leukocytes and the related phenotype in Fabry carriers, in particular evaluating the Mainz Severity Score Index or cardiac involvement. The meta-analysis did not show any correlation between MSSI or cardiac involvement and skewed XCI, likely because the analysis of XCI in leukocytes is not useful for predicting the phenotype in Fabry carriers.
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