Doctor Paul Brennan
University of Newcastle upon Tyne

Discussion Points

  • Mutations of the GLA gene and the relationship between the genotype and phenotype in Fabry disease
  • X-linked inheritance and the role of X-chromosome inactivation.
  • The importance of family-tree screening
  • Variability of clinical presentation in Fabry disease, including that in females and the N215S mutation.
  • Should clinical genetics influence Fabry-specific treatment?

MAT-XU-2300308 (v1.0)
Date of preparation: March 2023