De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia

Rett syndrome (RTT) is an X‐linked neurodevelopmental disorder caused by mutations in the MECP2 gene, with apparent lethality in male embryos. However, recent studies indicate that mutations in the MECP2 gene can cause congenital encephalopathy, an Angelman‐like phenotype and even nonspecific mental retardation in males.

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