What Disorders are Associated with MECP2 Mutations?
Mutations in the MECP2 gene are primarily associated with Rett syndrome, a rare genetic disorder that predominantly affects females. Rett syndrome is characterized by normal early growth followed by a slowing of development, loss of purposeful hand movements, and severe cognitive impairment. Other disorders associated with MECP2 mutations include MECP2 duplication syndrome and some forms of autism spectrum disorder (ASD).
