Rett syndrome

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Rett syndrome

Definition:

Rett syndrome is a disorder of the nervous system that leads to regression in development, especially in the areas of expressive language and hand use. In most cases, it is caused by a genetic mutation.

Causes, incidence, and risk factors:

Rett Syndrome occurs almost exclusively in girls and may be misdiagnosed as autism or cerebral palsy.

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The gene associated with Rett syndrome is on the X-chromosome. This gene contains instructions for creating methl-CpG-binding protein 2 (MeCP2), a protein that regulates the manufacture of various other proteins.

Mutations in the MeCP2 gene causes these other proteins to be produced incorrectly, which damages the maturing brain. Studies link mutations in this gene to 75% of Rett syndrome cases.

Females have two X chromosomes, so even when one has this significant mutation, the other X chromosome provides enough normal protein for the child to survive.

Males conceived with this mutation do not have a second X chromosome to compensate for the problem. Therefore, the mutation is usually lethal, leading to miscarriage, stillbirth, or very early death.

Most cases of the mutation arise spontaneously. However, there also seem to be some clusters within families and certain geographic regions, for example Norway, Sweden, and Northern Italy.