ArticleHuman genetics2014
De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation.
Article in Human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 60 citations in OpenAlex.
- Molecular Genetic Analysis and Prenatal Diagnosis of a Family With MECP2 Duplication Syndrome.Journal of clinical laboratory analysis · 2026Article
- Xist condensates: perspectives for therapeutic intervention.Genome biology · 2025Review
- MECP2-related disorders while gene-based therapies are on the horizon.Frontiers in genetics · 2024Review
- Methyl-CpG-Binding protein 2 duplication syndrome in a Chinese patient: A case report and review of the literature.World journal of clinical cases · 2023Article
- A novel quantitative targeted analysis of X-chromosome inactivation (XCI) using nanopore sequencing.Scientific reports · 2023Article
- A brief history of MECP2 duplication syndrome: 20-years of clinical understanding.Orphanet journal of rare diseases · 2022Review
- Understanding the Landscape of X-linked Variants Causing Intellectual Disability in Females Through Extreme X Chromosome Inactivation Skewing.Molecular neurobiology · 2020Article
- Heterozygous Deletion of theFrontiers in genetics · 2019Article
- X-linked intellectual disability update 2017.American journal of medical genetics. Part A · 2018Review
- Intellectual disability and epilepsy due to the K/L-mediated Xq28 duplication: Further evidence of a distinct, dosage-dependent phenotype.American journal of medical genetics. Part A · 2018Article
- Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family.BMC medical genetics · 2017Article
- A sibship with duplication of Xq28 inherited from the mother; genomic characterization and clinical outcomes.BMC medical genetics · 2017Article
- Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.Human mutation · 2016Article
- The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability.Molecular cytogenetics · 2016Article
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Authors and funding
10 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Xq28 microduplications of MECP2 are a prominent cause of a severe syndromic form of intellectual disability (ID) in males. Females are usually unaffected through near to complete X-inactivation of the aberrant X chromosome (skewing). In rare cases, affected females have been described due to random X-inactivation. Here, we report on two female patients carrying de novo MECP2 microduplications on their fully active X chromosomes. Both patients present with ID and additional clinical features. Mono-allelic expression confirmed complete skewing of X-inactivation. Consequently, significantly enhanced MECP2 mRNA levels were observed. We hypothesize that the cause for the complete skewing is due to a more harmful mutation on the other X chromosome, thereby forcing the MECP2 duplication to become active. However, we could not unequivocally identify such a second mutation by array-CGH or exome sequencing. Our data underline that, like in males, increased MECP2 dosage in females can contribute to ID too, which should be taken into account in diagnostics.
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