One of several diseases associated with the human X-linked gene MECP2; Rett syndrome is seen almost exclusively in females. For descriptions of related experiments in flies, see the human disease model report for neurodevelopmental disorders, MECP2-related (FBhh0000362).
A variant specifically implicated in Rett syndrome has been tested in flies. Variant(s) implicated in human disease tested (as transgenic human gene, MECP2): the R294* (R306*) variant form has been introduced into flies.
[updated Jul. 2017 by FlyBase; FBrf0222196]
[RETT SYNDROME; RTT](https://omim.org/entry/312750)
[METHYL-CpG-BINDING PROTEIN 2; MECP2](https://omim.org/entry/300005)
Rett syndrome is a neurodevelopmental disorder characterized by arrested development between 6 and 18 months of age, regression of acquired skills, loss of speech, stereotypic movements (classically of the hands), microcephaly, seizures, and mental retardation. [from MIM:312750; 2016.08.08]
Rett syndrome (RTT) is caused by mutation in the X-linked gene encoding methyl-CpG-binding protein-2 (MECP2). The disorder is observed almost exclusively in heterozygous females; males with somatic mosaicism or an extra X chromosome have been described (Moog et al., 2003; pubmed:12615169). [from MIM:312750; 2016.08.08] Male siblings of individuals with Rett syndrome have been described that exhibit a more severe disorder, neonatal severe encephalopathy (MIM:300673). [from MIM:300673; 2016.08.08]
MECP2 is dispensible in stem cells, but is essential for embryonic development. [from Gene Cards, MECP2; 2016.08.08]
MECP2, which binds methylated CpGs, is a chromatin-associated protein that can both activate and repress transcription; it is required for normal maturation of neurons. [from MIM:300005; 2016.08.08]
