Article
Pitfalls of X-chromosome inactivation testing in females with Fabry disease.
American journal of medical genetics. Part A - 1 Jul 2022
Řeboun Martin, Sikora Jakub, Magner Martin, Wiederlechnerová Helena, Černá Alena, Poupětová Helena, Štorkánova Gabriela, Mušálková Dita, Dostálová Gabriela, Goláň Lubor, Linhart Aleš, Dvořáková Lenka
Abstract excerpt
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the GLA gene encoding alpha-galactosidase A (AGAL). The impact of X-chromosome inactivation (XCI) on the phenotype of female FD patients remains unclear. In this study we aimed to determine pitfalls of XCI testing in a cohort of 35 female FD patients. XCI was assessed by two methylation-based and two allele-specific expression...
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