How is Rett syndrome diagnosed?
The diagnosis of Rett syndrome is made on the basis of the fulfillment of the diagnostic criteria. The presence of the MECP2 mutation (a blood test) confirms the diagnosis. Most mutations are sporadic, and occur only once in a family. There are more than 200 mutations in the MECP2 gene which contribute to Rett syndrome. Most of these are found in eight hotspots in the coding region of the gene (part of the gene which makes the MeCP2 protein). Mutations have been found in more than 95% of girls who fulfill the diagnostic criteria for RS. For the remaining 5% who do not currently show a MECP2 mutation, yet do still fulfill the diagnostic criteria, it is felt that their mutations are located in a part of the very large MECP2 gene not yet screened. So, at this time, it is possible to have Rett syndrome with or without the MECP2 mutation. Because researchers now understand that the MECP2 mutation also causes other disorders, it is possible to have the MECP2 gene mutation and not have Rett s
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