X-chromosomal inactivation patterns in women with Fabry disease.

ABSTRACT:

Background

Although Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A gene (GLA), women may develop severe symptoms. We investigated X-chromosomal inactivation patterns (XCI) as a potential determinant of symptom severity in FD women.

Patients and methods

We included 95 women with mutations in GLA (n = 18 with variants of unknown pathogenicity) and 50 related men, and collected mouth epithelial cells, venous blood, and skin fibroblasts for XCI analysis using the methylation status of the androgen receptor gene. The mutated X-chromosome was identified by comparison of samples from relatives. Patients underwent genotype categorization and deep clinical phenotyping of symptom severity.

Results

43/95 (45%) women carr

SUBMITTER: Wagenhauser L 

PROVIDER: S-EPMC9482401 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature