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 inherit 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 mental retardation 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.
In an effort to immediately leverage RSRT’s deep knowledge base and well established global scientific networks, Pam Albert, Melissa Ramocki and Monica Coenraads announced in late 2010 the MECP2 Duplication Syndrome Fund at RSRT. The Fund exclusively supports projects devoted to the study and means of treatment of MECP2 Duplication Syndrome. 100% of every dollar contributed is invested in research – not a single penny goes to overhead.
Mechanics for MECP2
April 27, 2013
Let’s Walk for Neil!
May 4, 2013
314 Shunpike Rd, Chatham NJ
ALL 4 ADAM
May 18th 2013
MECP2 Duplication Syndrome Tricky Tray Fundraiser
November 2, 2013
For more info pls contact Rachel Miller email@example.com
Brody’s Bunch Runs for Research
November 19, 2013
Iowa City Park
For more info please contact JoAnn Meaux at firstname.lastname@example.org
2nd Annual Beggin’ for Meghan MECP2 Duplication Syndrome Fundraiser
November 19, 2013
The Greene Turtle, Columbia, MD
For more info please contact Amy Morrison Baker, email@example.com
Charlie’s 15 for 15
Saturday, January 25, 2014 (6-10pm)
Creekside Y, The Woodlands, TX
Party! Food, Music, Dance, Silent Auction
For more info please contact Annie Russell, firstname.lastname@example.org