MECP2

The MECP2 gene, located on the X chromosome, plays a crucial role in regulating gene expression through a process called methylation. Mutations in this gene are the primary cause of Rett syndrome, a rare neurological disorder that almost exclusively affects females.12

Rett syndrome is characterized by progressive intellectual and motor disabilities, with symptoms typically appearing between six and 18 months of age. These can include repetitive hand movements, poor muscle tone, walking difficulties, and failure of head growth. While there is no cure, treatments focus on managing symptoms through therapies and medication. The MECP2 gene encodes a protein that binds to methylated DNA, helping to silence specific gene sequences.12