ArticleMolecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology2003
MECP2 mutations or polymorphisms in mentally retarded boys: diagnostic implications.
Article in Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.
- Comprehensive evaluation of the child with intellectual disability or global developmental delays.Pediatrics · 2014Pooled it
- Review
- Modeling Rett Syndrome with Human Pluripotent Stem Cells: Mechanistic Outcomes and Future Clinical Perspectives.International journal of molecular sciences · 2021Review
- Detection of Rare Methyl-CpG Binding Protein 2 Gene Missense Mutations in Patients With Schizophrenia.Frontiers in genetics · 2020Article
- 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
- Sex chromosome complement influences functional callosal myelination.Neuroscience · 2013Article
- The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1.Autism research : official journal of the International Society for Autism Research · 2012Article
- Methyl CpG-binding protein isoform MeCP2_e2 is dispensable for Rett syndrome phenotypes but essential for embryo viability and placenta development.The Journal of biological chemistry · 2012Article
- MECP2 mutations in males.Journal of medical genetics · 2007Review
- Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.American journal of human genetics · 2005Article
- Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males.Journal of medical genetics · 2004Article
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Authors and funding
6 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundAmong the well characterized X-linked conditions causing mental retardation, mutations in the methyl-CpG-binding protein 2 gene (MECP2) in Xq28 have been found in up to 85% of patients with Rett syndrome, a neurologic disorder which, in addition to other symptoms, severely affects higher cognitive functions in females. Mutations in the MECP2 gene are involved in a broad spectrum of phenotypes from classical Rett syndrome to mild intellectual difficulties in females and neonatal encephalopathy in males. Recently, mutations in the MECP2 gene were reported in males with non-specific mental retardation suggesting that defects in MECP2 could be responsible for up to 2% of X-linked mental retardation.
methodsWe screened by denaturing high-pressure liquid chromatography the entire coding region and flanking intronic sequences of the MECP2 gene in a cohort of 354 mentally retarded males found negative for an expansion across the FRAXA CGG repeat and in a family in which a boy and his sister were mentally retarded.
resultsWe identified mainly silent polymorphisms within the MECP2 gene, together with four sequence alterations of unknown significance, i.e. three missense mutations (T197M, T228S, and P376S) and one substitution at position -19 in intron 3 (378-19delT). Further familial investigations allowed us to ruled out a pathogenic effect for the intronic variant, the T228S and the P376S missense mutations.
conclusionsThese results confirm that MECP2 mutations in males are far more rare than initially thought and call for a careful evaluation of the pathogenicity of the MECP2 missense mutations identified in mentally retarded males before genetic counseling is proposed to the relatives.
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