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MECP2 duplication syndrome (MDS) is caused by additional copies of the methyl-CpG-binding protein 2 (MECP2) gene on the X chromosome. It is not to be confused with Rett syndrome, which is caused by loss of functional MECP2. MDS affects mostly boys, and in males it is 100% penetrant, meaning that all males carrying a duplication of the gene show signs of the disorder. It is a severe neurodevelopmental disorder that leads to moderate to profound intellectual disability, restricted speech, autistic traits, seizures, and recurrent infections. Females with duplications tend not to be as severely affected.

Genetics

Duplication, or sometimes triplication, of the MECP2 gene region is the underlying cause. Mutations are typically not de novo (newly occurring in an affected individual) but are inherited from a parent. ...

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