ArticleJournal of human genetics2016
MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability.
Article in Journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 33 citations in OpenAlex.
- Epigenetic Regulation and Neurodevelopmental Disorders: From MeCP2 to the TCF20/PHF14 Complex.Genes · 2024Review
- Reply to the Comments on "The Use of tDCS in a Patient with MECP2 Gene Mutation Presenting with Recurrent Catatonia: A Case Report".Indian journal of psychological medicine · 2024Article
- Genetic analysis of a pedigree with MECP2 duplication syndrome in China.BMC medical genomics · 2024Article
- Epigenetics in rare neurological diseases.Frontiers in cell and developmental biology · 2024Review
- Non-canonical C-terminal variant of MeCP2 R344W exhibits enhanced degradation rate.IBRO neuroscience reports · 2023Article
- The Epigenetic Reader Methyl-CpG-Binding Protein 2 (MeCP2) Is an Emerging Oncogene in Cancer Biology.Cancers · 2023Review
- Multilevel evidence of MECP2-associated mitochondrial dysfunction and its therapeutic implications.Frontiers in psychiatry · 2023Article
- Review
- Case Report: Prenatal Diagnosis for a Rett Syndrome Family Caused by a NovelFrontiers in pediatrics · 2021Article
- Treating Rett syndrome: from mouse models to human therapies.Mammalian genome : official journal of the International Mammalian Genome Society · 2019Review
- De novo mosaicClinical case reports · 2019Article
- The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2019Article
- A novel mutation R190H in the AT-hook 1 domain of MeCP2 identified in an atypical Rett syndrome.Oncotarget · 2017Article
- Transcriptome analysis of microglia in a mouse model of Rett syndrome: differential expression of genes associated with microglia/macrophage activation and cellular stress.Molecular autism · 2017Article
- Sequence-specific DNA binding by AT-hook motifs in MeCP2.FEBS letters · 2016Article
- Brain phosphorylation of MeCP2 at serine 164 is developmentally regulated and globally alters its chromatin association.Scientific reports · 2016Article
Corrections and comments
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Authors and funding
13 authors at 5 institutions in 2 countries.
Funding
Abstract
Methyl-CpG-binding protein 2 (MeCP2) is a nuclear protein highly expressed in neurons that is involved in transcriptional modulation and chromatin remodeling. Mutations in MECP2 in females are associated with Rett syndrome, a neurological disorder characterized by a normal neonatal period, followed by the arrest of development and regression of acquired skills. Although it was initially thought that MECP2 pathogenic mutations in males were not compatible with life, starting from 1999 about 60 male patients have been identified and their phenotype varies from severe neonatal encephalopathy to mild intellectual disability. Targeted next-generation sequencing of a panel of intellectual disability related genes was performed on two unrelated male patients, and two missense variants in MECP2 were identified (p.Gly185Val and p.Arg167Trp). These variants lie outside the canonical methyl-CpG-binding domain and transcription repression domain domains, where the pathogenicity of missense variants is more difficult to establish. In both families, variants were found in all affected siblings and were inherited from the asymptomatic mother, showing skewed X-chromosome inactivation. We report here the first missense variant located in AT-hook domain 1 and we underline the importance of MECP2 substitutions outside the canonical MeCP2 domains in X-linked intellectual disability.
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