ArticleMolecular genetics & genomic medicine2020
MeCP2_e2 partially compensates for lack of MeCP2_e1: A male case of Rett syndrome.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed, 12 citations in OpenAlex.
- Medical Biases and Misconceptions Impact Diagnoses in Males With Loss of Function MECP2 Variants.American journal of medical genetics. Part A · 2025Article
- Sex Differences in Brain Disorders.International journal of molecular sciences · 2023Review
- Rett Syndrome: A Tale of Altered Genetics, Synaptic Plasticity, and Neurodevelopmental Dynamics.Cureus · 2023Review
- Dosage sensitivity to Pumilio1 variants in the mouse brain reflects distinct molecular mechanisms.The EMBO journal · 2023Article
- Intellectual disability: dendritic anomalies and emerging genetic perspectives.Acta neuropathologica · 2021Review
- Role of DNA Methyl-CpG-Binding Protein MeCP2 in Rett Syndrome Pathobiology and Mechanism of Disease.Biomolecules · 2021Review
- Rett Syndrome and Fragile X Syndrome: Different Etiology With Common Molecular Dysfunctions.Frontiers in cellular neuroscience · 2021Review
- MeCP2: The Genetic Driver of Rett Syndrome Epigenetics.Frontiers in genetics · 2021Review
- MeCP2_e2 partially compensates for lack of MeCP2_e1: A male case of Rett syndrome.Molecular genetics & genomic medicine · 2020Article
- The MeCP2E1/E2-BDNF-Frontiers in cell and developmental biology · 2020Article
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9 authors at 4 institutions in 1 country.
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Abstract
backgroundRett syndrome (RTT) is a neurodevelopmental disorder that predominantly affects girls. Its causative gene is the X-linked MECP2 encoding the methyl-CpG-binding protein 2 (MeCP2). The gene comprises four exons and generates two isoforms, namely MECP2_e1 and MECP2_e2. However, it remains unclear whether both MeCP2 isoforms have similar function in the brain.
methodsWe report a case of a boy with typical RTT. Male cases with MECP2 variants have been considered inviable, but somatic mosaicism of the variants can cause RTT in males. Whole-exome sequencing was performed to search for the genetic background.
resultsA novel nonsense and mosaic variant was identified in exon 1 of MECP2, and the variant allele fraction (VAF) was 28%. Our patient had the same level of VAF as that in reported male cases with mosaic variants in MECP2 exon 3 or 4, but manifested RTT symptoms that were milder in severity compared to those in these patients.
conclusionThis is probably because the variants in MECP2 exon 3 or 4 disrupt both isoforms of MeCP2, whereas the variant in exon 1, as presented in this study, disrupts only MeCP2_e1 but not MeCP2_e2. Therefore, our findings indicate that MeCP2_e2 may partially compensate for a deficiency in MeCP2_e1.
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