X Chromosome Inactivation in Carriers of Fabry Disease: Review and Meta-Analysis
Abstract
:1. Anderson-Fabry Disease
1.1. Inheritance
1.2. Pathophysiology
1.3. Clinical Presentation
Cardiac Manifestations
1.4. Genotype-Phenotype Correlation
1.5. Treatment
2. Female Carriers of Fabry Disease
3. Skewed X-Chromosome Inactivation
3.1. Skewed XCI in the Normal (Healthy) Asymptomatic Females
3.2. Skewed XCI in Carriers of Inherited X-Linked Disorders
4. Meta-Analysis
5. Discussion
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Articles | Age | Skewed XCI | ||||
---|---|---|---|---|---|---|
Tissue Analyzed | Mild MSSI Score (Total Subjects) | Moderate-Severe MSSI Score (Total Subjects) | Cardiac Involvement (Total Subjects) | No Cardiac Involvement (Total Subjects) | ||
Dobrovolny et al., 2005 | Young/Adult | L, U, SE | 7 (24) | 4 (14) | n.d. | n.d. |
Maier et al., 2006 | Young/Adult | L | 5 (10) | 5 (18) | 6 (16) | 4 (12) |
Echeivarra et al., 2015 | Young/Adult | L, U, SE, skin | 3 (35) | 7 (21) | 7 (41) | 3 (8) |
Morrone et. al., 2003 | Young/Adult | L | n.d. | n.d. | 2 (0) | 2 (4) |
Rossanti et al., 2021 | Adult | L, | n.d. | n.d. | 0 (5) | 1 (2) |
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Viggiano, E.; Politano, L. X Chromosome Inactivation in Carriers of Fabry Disease: Review and Meta-Analysis. Int. J. Mol. Sci. 2021, 22, 7663. https://doi.org/10.3390/ijms22147663
Viggiano E, Politano L. X Chromosome Inactivation in Carriers of Fabry Disease: Review and Meta-Analysis. International Journal of Molecular Sciences. 2021; 22(14):7663. https://doi.org/10.3390/ijms22147663
Chicago/Turabian StyleViggiano, Emanuela, and Luisa Politano. 2021. "X Chromosome Inactivation in Carriers of Fabry Disease: Review and Meta-Analysis" International Journal of Molecular Sciences 22, no. 14: 7663. https://doi.org/10.3390/ijms22147663