Why is Rett Syndrome Only in Females

Rett syndrome is a rare genetic neurological and developmental disorder that primarily affects females.

This disorder influences brain development and results in a progressive loss of motor and language skills.

The disorder is caused by a mutation in the MECP2 gene, which is found on the X chromosome.

Because the MECP2 gene is located on the X chromosome, females who are born with one normal and one changed copy of the MECP2 gene usually develop Rett syndrome.

Many studies conducted over the last decade have revealed that the vast majority of MECP2 mutations originate in sperm.

Because fathers pass on an X chromosome to their daughters and a Y chromosome to their sons, the MECP2 mutation can only be passed down from father to daughter. This is why Rett is mostly seen in female roles.

During the first 6 to 18 months of life, children with Rett syndrome frequently have normal development.

After this period, they may experience regression and may lose speech and other developmental milestones. The symptoms can range from mild to severe.