PXE is an autosomal recessive disorder caused by mutations in the ABCC6 gene. More than 300 mutations have been identified that can cause PXE. Moreover, there is great variability in the manifestations of PXE among those affected by it. These differences raise the question of whether other factors, such as environmental or genetic background, contribute to differences in PXE manifestations among people with PXE. Dr. Doris Hendig and her research team at the Herz- und Diabeteszentrum NRW discovered potential genetic modifiers for PXE. These discoveries also led to the discovery of biomarkers which might be useful in monitoring progression of PXE. In this webinar Dr. Hendig summarizes the results of her recent studies and discusses the significance of these findings for the diagnosis and therapy of PXE.
Presenter: Doris Hendig, PhD
Presented on September 12, 2013