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What causes Rett syndrome?

Rett syndrome is caused by mutations in the MECP2 (pronounced meck-pea-two) gene, which is found on the X chromosome. Scientists identified the gene, which is believed to control the functions of several other genes, in 1999. Seventy to 80 percent of girls given a diagnosis of Rett syndrome have the MECP2 genetic mutation detected by current diagnostic techniques. Scientists believe the remaining 20 to 30 percent of cases may be caused by partial gene deletions, by mutations in other parts of the gene, or by genes that have not yet been identified; thus, they continue to search for other mutations.