Rett Syndrome - Cause

Cause

Genetically, Rett syndrome (RTT) is caused by mutations in the gene MECP2 located on the X chromosome, and can arise sporadically or from germline mutations. In less than 10% of RTT cases, mutations in the genes CDKL5 or FOXG1 have also been found to resemble it. Rett syndrome was initially diagnosed by clinical observation, but the diagnosis is definitive when there is a genetic defect in the MECP2 gene. In some very rare cases, no known mutated gene can be found suggesting changes in MECP2 that are not identified by presently used techniques or mutations in other genes that may result in clinical similarities.