Ontology highlight
ABSTRACT:
SUBMITTER: Villard L
PROVIDER: S-EPMC2597995 | biostudies-literature | 2007 Jul
REPOSITORIES: biostudies-literature
Rett syndrome (RS; MIM 312750) is a severe neurological disorder affecting exclusively females. Its prevalence is about 1 in 10,000 female births, and it is a prominent cause of profound mental handicap in women. RS is caused by mutations in the X-linked methyl CpG-binding protein 2 (MECP2) gene. These mutations were initially thought to be lethal in males. However, MECP2 mutations are now frequently identified in mentally retarded male patients. The frequency of disease-causing MECP2 mutations ...[more]