Loss of function of MECP2 in Rett syndrome

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Homo sapiens
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Loss of function mutations in methyl-CpG-binding protein 2 (MECP2), an epigenetic regulator of transcription, are the major cause of Rett syndrome, a neurodevelopmental disorder that affects 1 in 10,000-15,000 female births. The symptoms of Rett syndrome appear after 6-18 months of apparently normal postnatal development and include regression of acquired language and motor skills, stereotypic hand movements, intellectual disability, epileptic seizures and respiratory disturbances. Besides Rett syndrome, aberrant MECP2 expression is implicated as an underlying cause of other neuropsychiatric disorders (reviewed by Banerjee et al. 2012, Ebert and Greenberg 2013, Lyst and Bird 2015). Only functionally characterized MECP2 mutations are annotated. For a comprehensive list of MECP2 mutations reported in Rett syndrome, please refer to the RettBASE (http://mecp2.chw.edu.au), a database dedicated to curation of disease variants of MECP2, CDKL5 and FOXG1 in Rett syndrome (Krishnaraj et al. 2017).

Literature References
PubMed ID Title Journal Year
22586411 Rett syndrome: genes, synapses, circuits, and therapeutics

Banerjee, A, Castro, J, Sur, M

Front Psychiatry 2012
25732612 Rett syndrome: a complex disorder with simple roots

Bird, A, Lyst, MJ

Nat. Rev. Genet. 2015

Krishnaraj, R, Christodoulou, J

28544139 RettBASE: Rett syndrome database update

Krishnaraj, R, Ho, G, Christodoulou, J

Hum. Mutat. 2017
23325215 Activity-dependent neuronal signalling and autism spectrum disorder

Greenberg, ME, Ebert, DH

Nature 2013
Name Identifier Synonyms
Rett syndrome DOID:1206 Rett's disorder, cerebroatrophic hyperammonemia
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