Rett Syndrome

What causes Rett syndrome?

Source: NHS

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Almost all cases of Rett syndrome are caused by a mutation (a change in the DNA ) in the MECP2 gene, which is found on the X chromosome (one of the sex chromosomes ).

The MECP2 gene contains instructions for producing a particular protein (MeCP2), which is needed for brain development. The gene abnormality prevents nerve cells in the brain from workingproperly.

There's usually nofamily history ofRett syndrome, which means it isn't passed on from one generation to the next. Almost all cases (over 99%) are spontaneous, with the mutation occurring randomly. This is known as a 'de novo' mutation.

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