The
GLA gene is located on the X chromosome. Fabry disease is a rare X-linked disorder (population frequency approximately 1 in 40,000 frequency in individuals with chronic kidney disease as high as 1 in 500). Inheritance is X-linked:
- Mothers can transmit the variant to daughters and sons.
- Fathers can only transmit the variant to daughters; father to son transmission does not occur.
There is variable penetrance (likelihood of manifesting Fabry disease) and variable expressivity (specific constellation of clinical manifestations). Males
and females with a pathogenic variant in
GLA can develop symptoms of Fabry disease, and symptoms may differ in family members who carry the same variant. Discussion with a genetics expert or Fabry disease expert may help clarify the reproductive implications. Refer to UpToDate for the evaluation and management of individuals who carry a pathogenic variant in
GLA.
