The DOI matches its Crossref record; 45 of the 45 references it cites were found in a registry or an index.
X‐chromosome inactivation in female patients with Fabry disease
Abstract
Fabry disease (FD) is an X‐linked genetic disorder caused by the deficient activity of lysosomal α‐galactosidase (α‐Gal). While males are usually severely affected, clinical presentation in female patients may be more variable ranging from asymptomatic to, occasionally, as severely affected as male patients. The aim of this study was to evaluate the existence of skewed X‐chromosome inactivation (XCI) in females with FD, its concordance between tissues, and its contribution to the phenotype. Fifty‐six females with FD were enrolled. Clinical and biological work‐up included two global scores [Mainz Severity Score Index (MSSI) and DS3], cardiac magnetic resonance imaging, measured glomerular filtration rate, and measurement of α‐Gal activity. XCI was analyzed in four tissues using DNA methylation studies. Skewed XCI was found in 29% of the study population. A correlation was found in XCI patterns between blood and the other analyzed tissues although some punctual variability was detected. Significant differences in residual α‐Gal levels, severity scores, progression of cardiomyopathy and deterioration of kidney function, depending on the direction and degree of skewing of XCI were evidenced. XCI significantly impacts the phenotype and natural history of FD in females.
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Cites
Gene Action in the X-chromosome of the Mouse (Mus musculus L.)
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Self-citationMacDermot, K. D., Holmes, A., & Miners, A. H. (2001) · Journal of Medical Genetics · doi:10.1136/jmg.38.11.769 · Cited by 681
α-Galactosidase A deficiency. Fabry disease
Desnick, R. J. (2001) · Cited by 605
Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry
Wilcox, W. R., Oliveira, J. P., Hopkin, R. J., Ortiz, A., Banikazemi, M., Feldt-Rasmussen, U., Sims, K., Waldek, S., Pastores, G. M., Lee, P., et al. (2008) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2007.09.013 · Cited by 544
Self-citationBeutler, E., Yeh, M., & Fairbanks, V. F. (1962) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.48.1.9 · Cited by 503
Age- and tissue-specific variation of X chromosome inactivation ratios in normal women
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2023 ESC guidelines for the management of cardiomyopathies
Arbelo, E., Protonotarios, A., Gimeno, J. R., Arbustini, E., Barriales-Villa, R., Basso, C., Bezzina, C. R., Biagini, E., Blom, N. A., de Boer, R. A., et al. (2023) · European Heart Journal · doi:10.1093/eurheartj/ehad194 · Cited by 2,844
Fabry disease revisited: Management and treatment recommendations for adult patients
Ortiz, A., Germain, D. P., Desnick, R. J., Politei, J., Mauer, M., Burlina, A., Eng, C., Hopkin, R. J., Laney, D., Linhart, A., et al. (2018) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2018.02.014 · Cited by 650
Self-citationHughes, D. A., Nicholls, K., Shankar, S. P., Sunder-Plassmann, G., Koeller, D., Nedd, K., Vockley, G., Hamazaki, T., Lachmann, R., Ohashi, T., et al. (2017) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2016-104178 · Cited by 386
Self-citationCurrent and Investigational Therapeutics for Fabry Disease
Felis, A., Whitlow, M., Kraus, A., Warnock, D. G., & Wallace, E. (2020) · Kidney International Reports · doi:10.1016/j.ekir.2019.11.013 · Cited by 100
Metadata
- Authors
- Echevarria, L., Benistan, K., Toussaint, A., Dubourg, O., Hagege, A. A., Eladari, D., Jabbour, F., Beldjord, C., De Mazancourt, P., & Germain, D. P.
- Venue
- Clinical Genetics
- Publisher
- Wiley
- Published
- 2015-06-22
- Volume
- 89
- Issue
- 1
- Pages
- 44-54
- ISSN
- 0009-9163 (ISSN-L)
- 1399-0004
- OpenAlex
- W1934932849
- Cited by
- 424
- References
- 45
- FWCI
- 20.45
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: X‐chromosome inactivation in female patients with Fabry disease. https://app.cochat.ai/papers/10.1111/cge.12613
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- Echevarria, L., Benistan, K., Toussaint, A., Dubourg, O., Hagege, A. A., Eladari, D., Jabbour, F., Beldjord, C., De Mazancourt, P., & Germain, D. P. (2016). X‐chromosome inactivation in female patients with Fabry disease. Clinical Genetics. https://doi.org/10.1111/cge.12613
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