genetics
Last reviewed 11/2022
- 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)