ArticleJournal of medical genetics2000
Mutation screening in Rett syndrome patients.
Article in Journal of medical genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 112 citations in OpenAlex.
- Methyl-CpG-binding protein 2 gene mutations and its association with epilepsy: a single centre study from the Indian subcontinent.Journal of genetics · 2020Trial
- Diverse SOX3 genetic variants and their associated phenotypic spectrum in human disease.Endocrine reviews · 2026Review
- Article
- Genetic and genomic analysis of reproduction traits in holstein cattle using SNP chip data and imputed sequence level genotypes.BMC genomics · 2024Article
- Chromatin Alterations in Neurological Disorders and Strategies of (Epi)Genome Rescue.Pharmaceuticals (Basel, Switzerland) · 2021Review
- Genetic Analysis ofIranian journal of child neurology · 2019Article
- Spectrum of MECP2 mutations in Vietnamese patients with RETT syndrome.BMC medical genetics · 2018Article
- Loss of MeCP2 disrupts cell autonomous and autocrine BDNF signaling in mouse glutamatergic neurons.eLife · 2016Article
- 7,8-dihydroxyflavone exhibits therapeutic efficacy in a mouse model of Rett syndrome.Journal of applied physiology (Bethesda, Md. : 1985) · 2012Article
- Loss of activity-induced phosphorylation of MeCP2 enhances synaptogenesis, LTP and spatial memory.Nature neuroscience · 2011Article
- Article
- Selective cerebral volume reduction in Rett syndrome: a multiple-approach MR imaging study.AJNR. American journal of neuroradiology · 2008Article
- Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2.Proceedings of the National Academy of Sciences of the United States of America · 2007Article
- Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism.American journal of human genetics · 2005Article
- Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain.Journal of medical genetics · 2003Article
- Rapid genotyping of common MeCP2 mutations with an electronic DNA microchip using serial differential hybridization.The Journal of molecular diagnostics : JMD · 2003Article
- Elevated methyl-CpG-binding protein 2 expression is acquired during postnatal human brain development and is correlated with alternative polyadenylation.Journal of molecular medicine (Berlin, Germany) · 2003Article
- Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency.American journal of human genetics · 2002Article
- Rett syndrome and MeCP2: linking epigenetics and neuronal function.American journal of human genetics · 2002Review
- Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rett syndrome (RTT) was first described in 1966. Its biological and genetic foundations were not clear until recently when Amir et al reported that mutations in the MECP2 gene were detected in around 50% of RTT patients. In this study, we have screened the MECP2 gene for mutations in our RTT material, including nine familial cases (19 Rett girls) and 59 sporadic cases. A total of 27 sporadic RTT patients were found to have mutations in the MECP2 gene, but no mutations were identified in our RTT families. In order to address the possibility of further X chromosomal or autosomal genetic factors in RTT, we evaluated six candidate genes for RTT selected on clinical, pathological, and genetic grounds: UBE1 (human ubiquitin activating enzyme E1, located in chromosome Xp11.23), UBE2I (ubiquitin conjugating enzyme E2I, homologous to yeast UBC9, chromosome 16p13.3), GdX (ubiquitin-like protein, chromosome Xq28), SOX3 (SRY related HMG box gene 3, chromosome Xq26-q27), GABRA3 (gamma-aminobutyric acid type A receptor alpha3 subunit, chromosome Xq28), and CDR2 (cerebellar degeneration related autoantigen 2, chromosome 16p12-p13.1). No mutations were detected in the coding regions of these six genes in 10 affected subjects and, therefore, alterations in the amino acid sequences of the encoded proteins can be excluded as having a causative role in RTT. Furthermore, gene expression of MECP2, GdX, GABRA3, and L1CAM (L1 cell adhesion molecule) was also investigated by in situ hybridisation. No gross differences were observed in neurones of several brain regions between normal controls and Rett patients.
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