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Female Fabry disease patients and X-chromosome inactivation

Juchniewicz, Patrycja and Kloska, Anna and Tylki-Szymańska, Anna and Jakóbkiewicz-Banecka, Joanna and Węgrzyn, Grzegorz and Moskot, Marta and Gabig-Cimińska, Magdalena and Piotrowska, Ewa (2018) Female Fabry disease patients and X-chromosome inactivation. Gene, 641 . pp. 259-264.


Official URL: http://www.sciencedirect.com/science/article/pii/S...


Fabry disease is an X-linked inherited lysosomal storage disorder caused by mutations in the gene encoding α- galactosidase A (GLA). Once it was thought to affect only hemizygous males. Over the last fifteen years, research has shown that most females carrying mutated allele also develop symptoms, demonstrating a wide range of disease severity, from a virtually asymptomatic to more classical profile, with cardiac, renal, and cerebrovascular manifestations. This variable expression in females is thought to be influenced by the process of X-chromosome inactivation (XCI). The aim of this study was to assess severity of the clinical phenotype, to analyze XCI patterns, and to estimate their effect on disease manifestation in twelve female Fabry disease patients from five unrelated Polish families. Our analyses revealed that patients presented with the broad range of disease expression - from mild to severe, and their clinical involvement did not correlate with XCI profiles. Female carriers of the mutation in the GLA gene with the random XCI may present with the wide range of disease signs and symptoms. Thus, XCI is not a main factor in the phenotype variability of Fabry disease manifestation in heterozygous females.

Item Type:Article
Subjects:Q Science > Q Science (General)
Q Science > QH Natural history
Q Science > QH Natural history > QH301 Biology
Q Science > QH Natural history > QH426 Genetics
R Medicine > R Medicine (General)
Divisions:Laboratory of Molecular Biology (in Gdansk)
ID Code:1475
Deposited By: Prof. Magdalena Gabig-Cimińska
Deposited On:09 Jan 2018 11:40
Last Modified:28 Oct 2018 23:05

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