About MECP2 Duplication Syndrome

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SYMPTOMS

Common features include:

infantile hypotonia (low muscle tone)
global developmental delay
intellectual impairment and/or autistic traits including absent or limited speech and/or repetitive behaviours such as stereotypic hand movements (hand wringing, flapping, mouthing)
recurrent respiratory infections
epilepsy
ataxia (wobbly movements)
gastro-esophageal reflux
severe constipation
feeding difficulties

it is important to note that mds is a spectrum disorder and not all individuals will be affected in the same way. symptoms can range from very mild to very severe.

GENETICS

The genetic abnormality that causes MECP2 duplication syndrome is a double dose or duplication of the MECP2 or Methyl CpG binding protein 2 gene. Mutations in the MECP2 gene are most commonly associated with Rett syndrome in females. The protein made by the MECP2 gene, called MeCP2, plays a pivotal role in regulating brain function. Too little or too much of the MECP2 protein results in brain dysfunction and physical impairment.

TESTING & DIAGNOSIS

Advances in genetic testing and more widespread use of Array CGH (Comparative Genomic Hybridization) has led to increased diagnosis of MECP2 duplication syndrome. Array CGH allows for sub-microscopic (cannot be seen under a microscope) detection of missing or additional copies of genetic material and is the best screening test for a child with developmental delay as it will detect a number of genetic disorders including MECP2 duplication syndrome