ArticleEuropean journal of human genetics : EJHG2009
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.
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. An erratum has been issued. Cited by 67 papers.
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Who cites it
67 citing papers in PubMed, 148 citations in OpenAlex.
- Article
- miR-199a functions downstream of MeCP2 in neurons ofiScience · 2025Article
- An RNA editing strategy rescues gene duplication in a mouse model of MECP2 duplication syndrome and nonhuman primates.Nature neuroscience · 2025Article
- Article
- Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.Genome medicine · 2024Article
- An Irak1-Mecp2 tandem duplication mouse model for the study of MECP2 duplication syndrome.Disease models & mechanisms · 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
- Duplication within two regions distal to MECP2: clinical similarity with MECP2 duplication syndrome.BMC medical genomics · 2023Article
- MeCP2 regulateseLife · 2023Article
- Exploring the characteristics and most bothersome symptoms in MECP2 duplication syndrome to pave the path toward developing parent-oriented outcome measures.Molecular genetics & genomic medicine · 2022Article
- Medical Comorbidities inChildren (Basel, Switzerland) · 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
- Antisense oligonucleotide therapy in a humanized mouse model ofScience translational medicine · 2021Article
- Postnatal therapeutic approaches in genetic neurodevelopmental disorders.Neural regeneration research · 2021Review
- Mind the translational gap: using iPS cell models to bridge from genetic discoveries to perturbed pathways and therapeutic targets.Molecular autism · 2021Review
- Unraveling Molecular Pathways Altered in MeCP2-Related Syndromes, in the Search for New Potential Avenues for Therapy.Biomedicines · 2021Article
- MECP2 duplication syndrome in a patient from Cameroon.American journal of medical genetics. Part A · 2020Article
7 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
24 authors at 15 institutions in 7 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Duplications in Xq28 involving MECP2 have been described in patients with severe mental retardation, infantile hypotonia, progressive spasticity, and recurrent infections. However, it is not yet clear to what extent these and accompanying symptoms may vary. In addition, the frequency of Xq28 duplications including MECP2 has yet to be determined in patients with unexplained X-linked mental retardation and (fe)males with severe encephalopathy. In this study, we used multiplex ligation-dependent probe amplification to screen Xq28 including MECP2 for deletions and duplications in these patient cohorts. In the group of 283 patients with X-linked mental retardation, we identified three Xq28 duplications including MECP2, which suggests that approximately 1% of unexplained X-linked mental retardation may be caused by MECP2 duplications. In addition, we found three additional MECP2 duplications in 134 male patients with mental retardation and severe, mostly progressive, neurological symptoms, indicating that the mutation frequency could be as high as 2% in this group of patients. In 329 female patients, no Xq28 duplications were detected. In total, we assessed 13 male patients with a MECP2 duplication from six unrelated families. Moderate to severe mental retardation and childhood hypotonia was noted in all patients. The majority of the patients also presented with absent speech, seizures, and progressive spasticity as well as ataxia or an ataxic gait and cerebral atrophy, two previously unreported symptoms. We propose to implement DNA copy number testing for MECP2 in the current diagnostic testing in all males with moderate to severe mental retardation accompanied by (progressive) neurological symptoms.
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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.