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What is MECP2 duplication syndrome?
MECP2 duplication syndrome is a moderate to severe disorder neurodevelopmental disorder. Children affected by MECP2 duplication usually have low muscle tone and strength beginning as infants. They have delays in mental development, speech development and motor development. About three-fourths of the children affected have recurrent lung infections and this is the leading cause of death. 50% of males do die before the age of 25 years old. One-half of the children with the disorder have seizures. A child with MECP2 duplication is more likely to be diagnosed with Autism than a typical child. Also, it is very common to have stomach issues such as reflux and constipation.
What causes MECP2 duplication syndrome?
The syndrome is caused by a duplication, or in some rare cases a triplication, of a piece of the genetic code on the X chromosome. Most children inherit this mutation from their mother and it is not a random mutation (a de novo mutation). 100% of boys who inherit the duplication will have the disease. Girls are usually not affected if they inherit the duplication and are considered “carriers.” However there are cases where girls do have significant symptoms.