ArticleAmerican journal of human genetics2002
A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome.
Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.
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Who cites it
45 citing papers in PubMed, 123 citations in OpenAlex.
- The clinical spectrum of MECP2 variants in males: a multicenter Turkish cohort of 22 probands, with implications for diagnosis and variant interpretation.BMC pediatrics · 2026Article
- MeCP2 functions as a DNA methylation reader in immune homeostasis and cancer.Frontiers in epigenetics and epigenomics · 2026Review
- Broadening the Phenotype Spectrum of MECP2 Variants in Men.Molecular genetics & genomic medicine · 2025Article
- MECP2 Variants in Males: More Common than Previously Appreciated.Pediatric neurology · 2024Article
- DNA-binding proteins from MBD through ZF to BEN: recognition of cytosine methylation status by one arginine with two conformations.Nucleic acids research · 2024Article
- MeCP2 Is an Epigenetic Factor That Links DNA Methylation with Brain Metabolism.International journal of molecular sciences · 2023Review
- Report of a novel missense mutation in theClinical case reports · 2021Article
- Mental Health, Mitochondria, and the Battle of the Sexes.Biomedicines · 2021Review
- Parkinsonism, Intellectual Disability, and Catatonia in a Young Male WithMovement disorders clinical practice · 2020Article
- A boy with developmental regression.Paediatrics & child health · 2019Article
- Molecular Systems Biology of Neurodevelopmental Disorders, Rett Syndrome as an Archetype.Frontiers in integrative neuroscience · 2019Article
- The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2019Article
- Familial cases and male cases with MECP2 mutations.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2017Article
- From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2.Scientific reports · 2016Article
- Article
- Reduced neuronal size and mTOR pathway activity in the Mecp2 A140V Rett syndrome mouse model.F1000Research · 2016Article
- Rett syndrome: disruption of epigenetic control of postnatal neurological functions.Human molecular genetics · 2015Review
- MECP2 disorders: from the clinic to mice and back.The Journal of clinical investigation · 2015Review
- Regulatory functions and pathological relevance of the MECP2 3'UTR in the central nervous system.Cell regeneration (London, England) · 2015Article
- The Utility of Next-Generation Sequencing in Gene Discovery for Mutation-Negative Patients with Rett Syndrome.Frontiers in cellular neuroscience · 2015Review
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report here the genetic cause of the X-linked syndrome of psychosis, pyramidal signs, and macro-orchidism (PPM-X) in a three-generation family manifesting the disorder as a mutation in the methyl-CpG binding-protein 2 (MECP2) gene in Xq28. The A140V mutation was found in all affected males and all carrier females in the family. To date, descriptions have been published of two patients with independent familial mental retardation (MR) and two patients with sporadic MR who harbor this specific mutation in the MECP2 gene. This strongly suggests that A140V is a hot spot of mutation resulting in moderate to severe MR in males. A simple and reliable PCR approach has been developed for detection of the hot spot A140V mutation to prescreen any other unexplained cases of MR before further extensive mutation analyses.
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