Laura Mamounas PhD, Program Director at the National Institute of Neurological Disorder and Stroke (NINDS) at the NIH in Bethesda, provides an overview of Rett syndrome.
First described in the 1960s, Rett syndrome is a rare, neurodevelopmental disorder that is generally caused by one of more than 300 loss-of-function mutations in the MECP2 gene, located on the X chromosome. The mutations responsible for Rett syndrome are not inherited; they seem to appear spontaneously.
MECP2 plays a key role in multiple stages of brain development. It is part of a spectrum of disorders related by MECP2 gene dysfunction (e.g., PPM-X syndrome, MECP2-related severe neonatal encephalopathy).
Rett syndrome is most common in girls, and it is one of the most common genetic causes of developmental and intellectual impairment in girls. The disorder may occasionally be seen in boys, in whom the symptoms and dysfunction seem to be more severe.
