genetics

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  • fathers with Fabry disease pass on the defective gene to their daughters. The disease is an X-linked recessive disease:
    • the gene responsible for alpha-galactosidase is located on the long arm of the X chromosome at locus Xq 22.1 - there have been over 160 mutations identified
    • on average, 50% of the sons of a female carrier will have the disease
    • on average, 50% of the daughters of a female carrier will also be carriers
  • virtually all males with the defective gene will develop the severe form of Fabry disease
  • female carriers may also develop symptoms - the severity is variable. Also some female carriers may develop symptoms at a much later age than affected males
    • the clinical manifestations of Fabry disease in heterozygote females may be a result of random inactivation of one of the X chromosomes (Lyon hypothesis)

Last reviewed 01/2018