Unlike Rett Syndrome, which is caused by mutations or deletions in the MECP2 gene, the symptoms that arise from the duplication syndrome are caused, as the name suggests, by having an area of the X chromosome (Xq28), which includes the MECP2 gene, erroneously duplicated. The section duplicated may vary from individual to individual and may also contribute to the severity of the disease.
The syndrome has been diagnosed mostly in boys. The majority inherits the duplication from their mothers who are typically asymptomatic due to favorable X chromosome inactivation (the moms have inactivated the X chromosome that harbors the duplication). Carrier mothers have a 50% chance of passing on the duplication to their children.
The MECP2 Duplication Syndrome may be quite prevalent. Preliminary studies suggest that 1% of cases of X-linked intellectual disability may be due to this syndrome. The core phenotypes in boys include infantile hypotonia, mild dysmorphic features, developmental delay, absent to minimal speech, recurrent infections, progressive spasticity especially of the lower limbs, ataxia, autistic features, and seizures. Females with MECP2 duplication without X chromosome inactivation skewing have been reported and present similarly to boys.
MECP2 Duplication Syndrome Fund at RSRT
In an effort to immediately leverage RSRT’s deep knowledge base and global scientific networks the MECP2 Duplication Syndrome Fund at RSRT was created in 2010. The Fund puts the intellectual and scientific resources of RSRT immediately to work for the MECP2 Duplication/Triplication Syndrome community. The Fund exclusively supports research aimed at reversing MECP2 Duplication Syndrome. 100% of every dollar contributed is invested in research – not a single penny goes to overhead.
In 2012, a parent-driven effort was established to raise funds for the initial reversal experiments conducted at the Baylor College of Medicine. The initiative was a success, and the 401 Project was born. All funds raised through the 401 Project initiative come directly to RSRT and are earmarked exclusively for the MECP2 Duplication Syndrome Fund at RSRT.
Every dollar in the Fund has been raised or given by families with an afflicted loved one. This funding has resulted in critically important advances in research on MECP2 Duplication Syndrome.
In late 2019 RSRT committed to funding two promising new projects: Ronald Cohn at the Hospital for Sick Kids and Anastasia Khvorova at the University of Massachusetts Medical School. The combined budget for both projects is $1 million.
In support of these two projects, Rajeev and Dipika Batra have made an extremely generous pledge of $300,000 in honor of their son, Rohan. This brings the total raised by the MECP2 Duplication Syndrome Fund to $3,834,247.
The Batra pledge combined with previous contributions to the Fund leaves $110,000 that needs to be raised as quickly as possible to cover the costs of the projects.