ArticleEuropean journal of human genetics : EJHG2012
The phenotype associated with a large deletion on MECP2.
Article in European journal of human genetics : EJHG, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00299312 (Rett Syndrome Natural History), which is not on this map. Cited by 19 papers, 2 of them syntheses that pooled it.
What it found
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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.
Rett Syndrome Natural History: Genetic and Physical Characteristics of Rett Syndrome
Who cites it
19 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Non-epileptic paroxysmal events in Rett syndrome: A systematic review of case-based and observational evidence.Developmental medicine and child neurology · 2026Pooled it
- Movement disorders in patients with Rett syndrome: A systematic review of evidence and associated clinical considerations.Psychiatry and clinical neurosciences · 2021Pooled it
- Structures of MeCP2 bound to nucleosomes reveal distinct mechanisms of Rett syndrome mutations.bioRxiv : the preprint server for biology · 2026Article
- Rett syndrome in Ireland: a demographic study.Orphanet journal of rare diseases · 2024Article
- Enablers and barriers in dental attendance in Rett syndrome: an international observational study.Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry · 2022Observational
- Reviewing Evidence for the Relationship of EEG Abnormalities and RTT Phenotype Paralleled by Insights from Animal Studies.International journal of molecular sciences · 2021Review
- Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis.Molecular genetics & genomic medicine · 2019Article
- Longitudinal effects of caregiving on parental well-being: the example of Rett syndrome, a severe neurological disorder.European child & adolescent psychiatry · 2019Article
- Oral health experiences of individuals with Rett syndrome: a retrospective study.BMC oral health · 2018Article
- Comparing Parental Well-Being and Its Determinants Across Three Different Genetic Disorders Causing Intellectual Disability.Journal of autism and developmental disorders · 2018Article
- Expression of Phospho-MeCP2s in the Developing Rat Brain and Function of Postnatal MeCP2 in Cerebellar Neural Cell Development.Neuroscience bulletin · 2017Article
- Clinical and biological progress over 50 years in Rett syndrome.Nature reviews. Neurology · 2017Review
- Defects in brainstem neurons associated with breathing and motor function in the Mecp2R168X/Y mouse model of Rett syndrome.American journal of physiology. Cell physiology · 2016Article
- Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study.American journal of medical genetics. Part A · 2016Article
- Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome.Orphanet journal of rare diseases · 2016Article
- Validating the Rett Syndrome Gross Motor Scale.PloS one · 2016Article
- Experience of gastrostomy using a quality care framework: the example of rett syndrome.Medicine · 2014Article
- Twenty years of surveillance in Rett syndrome: what does this tell us?Orphanet journal of rare diseases · 2014Article
- Xq28 (MECP2) microdeletions are common in mutation-negative females with Rett syndrome and cause mild subtypes of the disease.Molecular cytogenetics · 2013Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors.
Funding
Abstract
Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the MECP2 gene allowing genetic confirmation of previously unconfirmed cases of clinical Rett syndrome. This study describes the phenotype of those with a large deletion and compares with those with other pathogenic MECP2 mutations. Individuals were ascertained from the Australian Rett Syndrome and InterRett databases with data sourced from family and clinician questionnaires, and two case studies were constructed from the longitudinal Australian data. Regression and survival analysis were used to compare severity and age of onset of symptoms in those with and without a large deletion. Data were available for 974 individuals including 51 with a large deletion and ages ranged from 1 year 4 months to 49 years (median 9 years). Those with a large deletion were more severely affected than those with other mutation types. Specifically, individuals with large deletions were less likely to have learned to walk (OR 0.42, 95% CI: 0.22-0.79, P=0.007) and to be currently walking (OR 0.53, 95% CI: 0.26-1.10, P=0.089), and were at higher odds of being in the most severe category of gross motor function (OR 1.84, 95% CI: 0.98-3.48, P=0.057) and epilepsy (OR 2.72, 95% CI: 1.38-5.37, P=0.004). They also developed epilepsy, scoliosis, hand stereotypies and abnormal breathing patterns at an earlier age. We have described the disorder profile associated with a large deletion from the largest sample to date and have found that the phenotype is severe with motor skills particularly affected.
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Registered trials
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