ArticleEuropean journal of human genetics : EJHG2009
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.
Article in European journal of human genetics : EJHG, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
40 citing papers in PubMed.
- Pediatric intestinal pseudo-obstruction found in 3-year-old male with Rett-related mutation of methyl-CpG binding protein 2.JPGN reports · 2026Article
- A unique case of late-onset CIPO caused by a missense mutation in the long isoform ofFrontiers in genetics · 2025Article
- Epigenetic Regulation and Neurodevelopmental Disorders: From MeCP2 to the TCF20/PHF14 Complex.Genes · 2024Review
- X-Linked Epilepsies: A Narrative Review.International journal of molecular sciences · 2024Review
- 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
- Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy.American journal of medical genetics. Part A · 2023Article
- Comment to the Description of a Novel Cohesinopathy in Chronic Intestinal Pseudo Obstruction.Journal of neurogastroenterology and motility · 2022Article
- A brief history of MECP2 duplication syndrome: 20-years of clinical understanding.Orphanet journal of rare diseases · 2022Review
- Rett Syndrome andNeuropsychiatric disease and treatment · 2022Review
- Review
- Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene.BMC medical genetics · 2020Article
- Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome.Clinical genetics · 2019Article
- Copy number variations in a population with prune belly syndrome.American journal of medical genetics. Part A · 2018Article
- FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature.BMC medical genetics · 2018Article
- Valproic acid as a monotherapy in drug-resistant methyl-CpG-binding protein 2 gene (MECP2) duplication-related epilepsy.Epilepsy & behavior case reports · 2018Article
- A sibship with duplication of Xq28 inherited from the mother; genomic characterization and clinical outcomes.BMC medical genetics · 2017Article
- Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes.American journal of medical genetics. Part A · 2016Review
- Loss of MeCP2 Causes Urological Dysfunction and Contributes to Death by Kidney Failure in Mouse Models of Rett Syndrome.PloS one · 2016Article
- MECP2 duplication syndrome in a Chinese family.BMC medical genetics · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors.
Funding
Abstract
Xq28 duplications encompassing MECP2 have been described in male patients with a severe neurodevelopmental disorder associated with hypotonia and spasticity, severe learning disability and recurrent pneumonia. We identified an Xq28 duplication in three families where several male patients had presented with intestinal pseudo-obstruction or bladder distension. The affected boys had similar dysmorphic facial appearances. Subsequently, we ascertained seven further families where the proband presented with similar features. We demonstrated duplications of the Xq28 region in five of these additional families. In addition to MECP2, these duplications encompassed several other genes already known to be associated with diseases including SLC6A8, L1CAM and Filamin A (FLNA). The two remaining families were shown to have intragenic duplications of FLNA only. We discuss which elements of the Xq28 duplication phenotype may be associated with the various genes in the duplication. We propose that duplication of FLNA may contribute to the bowel and bladder phenotype seen in these seven families.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.