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There has been a flurry lately of papers identifying genes that might be important in autism. But what effect do mutations in these genes have clinically?

The answers are a bit closer at hand for Rett syndrome, which is a closely related disorder, but a lot less complex ― mainly because it is linked to a single gene, MECP2. Huda Zoghbi in 1999 identified this gene as Rettʼs cause.

In the March issue of Neurology, an international team including Zoghbi has catalogued the eight most common mutations responsible for cases of Rett syndrome. This is important because different mutations may result in different degrees of severity.

Teasing out the relationship between these mutations and the resulting symptoms would help doctors and parents predict how a particular child is likely to fare.

In their study, the researchers looked at mutations in 245 girls and women and were able to link certain mutations to specific symptoms ― such as the ability to walk, hand use and language, three cardinal features of Rett syndrome.

Unlike autism, Rett syndrome affects mainly girls, but is characterized by many of the same features. Mutations in the MECP2 gene have also been seen in some cases of childhood schizophrenia, classic autism and learning disabilities, though, so this study could have broader implications.