MECP2 duplication syndrome is characterized by a wide variety of symptoms. These disorders are sometimes grouped together as MECP2-related disorders. Mutations of the MECP2 gene are known to cause Rett syndrome, a neurological disorder that primarily affects females. The discovery that microduplications involving the MECP2 gene on the X chromosome cause a distinct neurological disorder (now known as MECP2 duplication syndrome) was first reported in the medical literature in 2005. One of the first descriptions in the medical literature of this disorder as a distinct neurological entity was by Lubs et al. Rarely, females can develop a severe form of the disorder similar to males The disorder predominantly affects males, but females who carry the duplication on one X chromosome (heterozygotes) may exhibit some signs of the disorder. In most affected individuals, the MECP2 duplication is inherited in an X-linked manner in rare cases, the duplication may occur randomly for no apparent reason (de novo duplication). This region includes the MECP2 gene and typically several adjacent genes. MECP2 duplication syndrome is caused by the duplication of genetic material on a specific region on the X chromosome (Xq28). MECP2 duplication syndrome is a rare genetic neurodevelopmental disorder characterized by a wide variety of symptoms including low muscle tone (hypotonia), potentially severe intellectual disability, developmental delays, recurrent respiratory infections, speech abnormalities, seizures, and progressive spasticity, a condition characterized by muscle stiffness that is worsened with movement and can be associated with involuntary muscle spasms. Stay Informed With NORD’s Email Newsletter.Find a Rare Disease Patient Organization.
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