Childhood and adolescence disorders Atypical Rett syndrome in a young boy with c.316c>T mutation in MECP2 gene

Mutations in MECP2 gene have been implicated in the etiology of Rett syndrome, a neurodevelopmental disorder that primarily affects females, and affect 90% to 95% patients with classical Rett syndrome. MECP2 mutations, once thought to be lethal in males, now present a broad spectrum of clinical manifestations in males. Here we report a 3-years-old male, who displayed autistic symptoms, and eventually diagnosed to have Rett syndrome after genetic analysis revealing a c.316C>T mutation in MECP2 gene.