26 Jul 2016 While it's true that Rett Syndrome is mainly a girls' disorder, it's not true that boys can't have it. In fact, those of us active on Facebook have

It has been more than 50 years since Andreas Rett first described the unusual clinical entity that came to be known as Rett syndrome (Online Mendelian Inheritance in Man number 312750), and 20 years since the discovery that Rett syndrome is caused by mutations in X-linked MECP2.

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Rett syndrome in males

In some cells of males Less severe MECP2 mutations. Some RTT was originally thought to be present exclusively in females. However, advances in genetic testing and phenotypic identification revealed that it is not a female-only disorder as cases of males with similar phenotype were reported. RTT was considered lethal in males as it has an X-linked dominant inheritance.

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Rett syndrome, boys with severe encephalopathy and. It is now believed, however, that the prevalence rate of Rett may be much higher. Although rare, it is possible for boys to also have the disorder.

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Halbach NS, Smeets EE, van den Braak N, van Roozendaal KE, Blok RM, Schrander-Stumpel CT et al. Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice. It is an X-linked dominant disorder, with presumed lethality in males.

6,9 Some boys with Rett syndrome, however, do live past infancy, likely for one of three reasons: Mosaicism (pronounced moh-ZEY-uh-siz-uhm ), a condition in which individual cells within the same person have a different genetic makeup.
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