Very mild cases of Rett syndrome with skewed X inactivation.

ABSTRACT:

Background

Rett syndrome, a common cause of mental retardation in females, is caused by mutations in the MECP2 gene. Most females with MECP2 mutations fulfil the established clinical criteria for Rett syndrome, but single cases of asymptomatic carriers have been described. It is therefore likely that there are individuals falling between these two extreme phenotypes.

Objective

To describe three patients showing only minor symptoms of Rett syndrome.

Findings

The patient with the best intellectual ability had predominantly psychiatric problems with episodes of uncontrolled aggression that have not been described previously in individuals with MECP2 mutations. All three patients had normal hand function, communicated well, and showed short spells of hyperventilation only

SUBMITTER: Huppke P 

PROVIDER: S-EPMC2563162 | biostudies-literature | 2006 Oct

REPOSITORIES: biostudies-literature