Alternate form of MeCP2 gene implicated in Rett syndrome

It has been known since 1999 that the MeCP2 gene is involved in Rett syndrome, a neurological disorder. However, the mutated gene was found in only about 80% of individuals with the syndrome. Research published in the April 2004 issue of Nature Genetics reports identification of an alternate form of the MeCP2 gene in individuals with Rett syndrome, which would account for some or all of the 20% of individuals who lacked the "usual" MeCP2 mutation. The researchers recommend developing a new genetic test for Rett syndrome that includes both forms of MeCP2.