A female with severe developmental delay, aggressive behaviour, hyperphagia, and obesity: an atypical phenotype of a MECP2 mutation

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Daniel Bierstone
Lea Velsher

Keywords

Rett Syndrome, MECP2, neurodevelopmental disorders

Abstract

We report a female patient with severe developmental delay, aggressive behaviour, hyperphagia, and obesity, associated with a previously described Methyl-CpG-Binding Protein 2 (MECP2) truncation mutation. Whereas MECP2 mutations are commonly associated with Rett Syndrome (RTT), the patient did not exhibit any of the classic features of RTT. We review our case in light of previous reports of behavioural manifestations of MECP2 mutations.