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Details on Person Loss of function mutations in methyl-CpG-binding protein 2 (...
| Class:Id | Summation:9022642 |
|---|---|
| _displayName | Loss of function mutations in methyl-CpG-binding protein 2 (... |
| _timestamp | 2022-11-02 13:22:22 |
| created | [InstanceEdit:9022643] Orlic-Milacic, Marija, 2017-09-25 |
| modified | [InstanceEdit:9022648] Orlic-Milacic, Marija, 2017-09-25 [InstanceEdit:9022691] Orlic-Milacic, Marija, 2017-09-25 [InstanceEdit:9022695] Orlic-Milacic, Marija, 2017-09-25 [InstanceEdit:9022800] Orlic-Milacic, Marija, 2017-09-25 [InstanceEdit:9024209] Orlic-Milacic, Marija, 2017-10-02 [InstanceEdit:9604963] Orlic-Milacic, Marija, 2018-04-05 [InstanceEdit:9615848] Orlic-Milacic, Marija, 2018-08-08 [InstanceEdit:9615852] Orlic-Milacic, Marija, 2018-08-08 [InstanceEdit:9819175] Orlic-Milacic, Marija, 2022-11-02 |
| text | 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). The pathway "Loss of MECP2 binding ability to the NCoR/SMRT complex" describes MECP2 loss-of-function mutations reported in Rett syndrome that impair its ability to associate with the NCoR/SMRT complex. The pathway "Loss of phosphorylation of MECP2 at T308" describe loss-of-function mutations in MECP2 reported in Rett syndrome that impair its ability to undergo phosphorylation at threonine residue 308 in response to neuronal activity. The pathway "Loss of MECP2 binding ability to 5hmC-DNA" describes MECP2 loss-of-function mutations reported in Rett syndrome that impair the ability of MECP2 to bind to hydroxymethylated DNA. The pathway "Loss of MECP2 binding ability to 5mC-DNA" describes MECP2 loss-of-function mutations reported in Rett syndrome that impair the ability of MECP2 to bind to methylated DNA. |
| (summation) | [Pathway:9005891] Loss of function of MECP2 in Rett syndrome [Homo sapiens] |
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No pathways have been reviewed or authored by Loss of function mutations in methyl-CpG-binding protein 2 (... (9022642)
