Facts about X-Linked Human Anomalies
- 05
Rett syndrome, an X-linked dominant disorder caused by mutations in the MECP2 gene, almost exclusively affects females, as males with the mutation rarely survive.
- 04
Fragile X syndrome, an X-linked condition caused by expansion of a CGG repeat in the FMR1 gene, is the most common inherited cause of intellectual disability.
- 03
Duchenne muscular dystrophy, an X-linked recessive condition caused by mutations in the dystrophin gene, is one of the most common fatal genetic disorders affecting boys.
- 02
Color blindness, a common X-linked recessive condition, affects approximately 8% of males but only about 0.5% of females worldwide.
- 01
Hemophilia A, an X-linked recessive bleeding disorder caused by deficiency of clotting factor VIII, affects males far more frequently than females.