Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome.

ABSTRACT:

Background

Rett syndrome (RTT), a neurodevelopmental disorder that primarily affects girls, is characterised by a period of apparently normal development until 6-18 months of age when motor and communication abilities regress. More than 95% of individuals with RTT have mutations in methyl-CpG-binding protein 2 (MECP2), whose protein product modulates gene transcription. Surprisingly, although the disorder is caused by mutations in a single gene, disease severity in affected individuals can be quite variable. To explore the source of this phenotypic variability, we propose that specific MECP2 mutations lead to different degrees of disease severity.

Methods

Using a database of 1052 participants assessed over 4940 unique visits, the largest cohort of both typical and atypical R

SUBMITTER: Cuddapah VA 

PROVIDER: S-EPMC4403764 | biostudies-literature | 2014 Mar

REPOSITORIES: biostudies-literature