What Is Rett Syndrome?
3. Causes
The exact cause of Rett syndrome is not at all well understood, although we do know it is a type of genetic disorder. More specifically, it is a disorder that is usually located in the MECP2 gene. There are several variants of Rett syndrome, and which variant the patient has will depend on the specific gene affected.
Rett syndrome is inherited in only a small percentage of cases. In the other cases, the mutation of the gene appears to be completely random. It is not understood why, but it appears as though the mutation interferes with the production of certain proteins that are essential for the development of the brain.
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