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MECP2 Duplication Syndrome

MECP2 Duplication Syndrome is caused by the same gene as Rett Syndrome. In Rett Syndrome, there are mutations or deletions in the MECP2 gene, whereas in MECP2 Duplication Syndrome, the gene is mistakenly duplicated. The syndrome has been diagnosed mostly in boys.

Most boys inherit the duplication from their mothers who usually do not have any symptoms due to favourable X chromosome inactivation. Carrier mothers have a 50% chance of passing on the duplication to their children.

Most boys with MECP2 Duplication Syndrome have the following symptoms; low tone, mild dysmorphic features, developmental delay, absent or minimal speech, recurrent infections, progressive stiffness especially of the lower limbs, dyspraxia, autistic features and seizures. Girls can also have MECP2 Duplication Syndrome and present similarly to boys.

The MECP2 Duplication Fund at Reverse Rett was started in 2012. The fund provides a way for UK Duplication families and friends to fundraise and donate to international MECP2 Duplication research projects. 100% of funds raised or donated to the MECP2 Duplication Fund at Reverse Rett are delivered to the MECP2 Duplication Fund at RSRT every quarter and allocated to the relevant research projects.

If you would like to fundraise for the MECP2 Duplication Fund at Reverse Rett then please set up a Just Giving through the dedicated Duplication Fund Campaign here.

These projects which we fund are listed below.

If you have a son or daughter with MECP2 Duplication please add that person to our UK Registry for people with Rett Syndrome and related disorders. Adding your child to this registry means we can contact you directly about any forthcoming clinical trials as well as the latest research developments and enables us to make a better case for improved clinical provision and treatments for MECP2 Duplication Disorder to become available in the UK.

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