ArticleClinical genetics2019
Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome.
Article in Clinical genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed, 55 citations in OpenAlex.
- Comparison of Core Features in Four Developmental Encephalopathies in the Rett Natural History Study.Annals of neurology · 2020Trial
- Single-dose administration of therapeutic divalent siRNA targeting MECP2 prevents lethality in an MECP2 duplication mouse model.Nature communications · 2026Article
- Functional skills in MECP2 duplication syndrome: developmental dynamics and regression.Orphanet journal of rare diseases · 2026Article
- Case Report: MECP2 and SH3KBP1 variants associated with autism spectrum disorder and immune dysregulation.Frontiers in immunology · 2026Article
- Expanding the phenotypic spectrum of Xq28 duplication involving MECP2: a familial case report.Frontiers in psychiatry · 2026Article
- MECP2 Duplication Uncouples Mitochondrial and Purine Metabolism During neuronal maturation.bioRxiv : the preprint server for biology · 2025Article
- miR-199a functions downstream of MeCP2 in neurons ofiScience · 2025Article
- Neuronal Plasticity-Dependent Paradigm and Young Plasma Treatment Prevent Synaptic and Motor Deficit in a Rett Syndrome Mouse Model.Biomolecules · 2025Article
- Comprehensive assessment reveals numerous clinical and neurophysiological differences between MECP2-allelic disorders.Annals of clinical and translational neurology · 2025Article
- Article
- Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.Genome medicine · 2024Article
- Rett syndrome: The Natural History Study journey.Annals of the Child Neurology Society · 2024Review
- An Irak1-Mecp2 tandem duplication mouse model for the study of MECP2 duplication syndrome.Disease models & mechanisms · 2024Article
- X-Linked Epilepsies: A Narrative Review.International journal of molecular sciences · 2024Review
- Sensory experiences questionnaire unravels differences in sensory profiles between MECP2-related disorders.Autism research : official journal of the International Society for Autism Research · 2024Article
- Genetic analysis of a pedigree with MECP2 duplication syndrome in China.BMC medical genomics · 2024Article
- 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
- Exploring gastrointestinal health in MECP2 duplication syndrome.Neurogastroenterology and motility · 2023Article
- How Families Manage the Complex Medical Needs of Their Children withChildren (Basel, Switzerland) · 2023Article
Corrections and comments
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Authors and funding
17 authors at 13 institutions in 1 country.
Funding
Abstract
Individuals with methyl CpG binding protein 2 (MECP2) duplication syndrome (MDS) have varying degrees of severity in their mobility, hand use, developmental skills, and susceptibility to infections. In the present study, we examine the relationship between duplication size, gene content, and overall phenotype in MDS using a clinical severity scale. Other genes typically duplicated within Xq28 (eg, GDI1, RAB39B, FLNA) are associated with distinct clinical features independent of MECP2. We additionally compare the phenotype of this cohort (n = 48) to other reported cohorts with MDS. Utilizing existing indices of clinical severity in Rett syndrome, we found that larger duplication size correlates with higher severity in total clinical severity scores (r = 0.36; P = 0.02), and in total motor behavioral assessment inventory scores (r = 0.31; P = 0.05). Greater severity was associated with having the RAB39B gene duplicated, although most of these participants also had large duplications. Results suggest that developmental delays in the first 6 months of life, hypotonia, vasomotor disturbances, constipation, drooling, and bruxism are common in MDS. This is the first study to show that duplication size is related to clinical severity. Future studies should examine whether large duplications which do not encompass RAB39B also contribute to clinical severity. Results also suggest the need for creating an MDS specific severity scale.
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