Two affected boys in a Rett syndrome family

Villard, Laurent; Kpebe, Arlette; Cardoso, Carlos; Chelly, Jamel; Tardieu, Marc; Fontés, Michel

doi:10.1212/wnl.55.8.1188

Cited by 180 publications

(151 citation statements)

References 15 publications

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“…21 In addition, skewing of X-chromosome inactivation may modulate the clinical severity of the disorder, as was seen in a family in which a T158M mutation was seen in a mother who was clinically normal and had completely skewed X-chromosome inactivation favouring the normal allele, and in her daughter with clinically diagnosed RTT and at least one of her sons who died early in life from severe apnoea. 12 Rather than being a global transcription repressor as initially suspected, MeCP2 may mediate the expression of a subset of specific targets in the brain. There is recent evidence that MeCP2 binds specifically to certain DNA sequences.…”

Section: Mutations In Mecp2mentioning

confidence: 99%

Rett syndrome: new clinical and molecular insights

2006

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Section: Mutations In Mecp2mentioning

confidence: 99%

Rett syndrome: new clinical and molecular insights

2006

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“…In addition, MECP2 mutations have been associated with non-RTT phenotypes, including neonatal onset encephalopathy in males, either as a germline [Villard et al, 2000;Imessaoudene et al, 2001] or somatic [Clayton-Smith et al, 2000] mutation, an Angelman-like phenotype [Watson et al, 2001], mild nonspecific mental retardation [Orrico et al, 2000;Yntema et al, 2002], and X-linked mental retardation pedigrees [Meloni et al, 2000;Dotti et al, 2002;Klauck et al, 2002].…”

Section: Introductionmentioning

confidence: 99%

RettBASE: The IRSA MECP2 variation database—a new mutation database in evolution

Christodoulou

Grimm

Maher³

et al. 2003

Hum. Mutat.

152

123

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Communicated by Jaime CuticchiaRett syndrome (RTT) is a neurodevelopmental disorder affecting primarily females, with an incidence of around 1 in 15,000 females. In 1999, mutations in the X-linked gene methyl-CpG-binding protein 2 (MECP2) were first reported in RTT subjects, and since that time there have been a number of publications describing cohorts of patients and their mutations. In addition, MECP2 mutations have been reported in patients who do not fit the diagnostic criteria for Rett syndrome. We have developed a new locus-specific database, RettBASE (http://mecp2.chw.edu.au/), loosely based on the PAHdb website. The aim is to obtain data relating to all known instances of MECP2 variations, including published data and data directly submitted by one of various means (either by using an online submission form, or by sending the same form in Adobe portable document format (pdf) or Microsoft Word format by email or fax to the database curators). The database has a range of query capabilities, allowing for simple or complex interrogation of the database. To address the issue of patient confidentiality, we have incorporated an Excel spreadsheet algorithm that allows the generation of a unique number based on the subject's name and date of birth. We believe this database will prove to be a useful resource, allowing the development of accurate prevalence data for disease-causing mutations, providing a catalog of polymorphisms, and potentially allowing more accurate phenotype-genotype correlations to be drawn. Hum Mutat 21:466-472,

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“…Behavioral findings include developmental stagnation after 7-18 months, ataxia, stereotyped hand-wringing motions, and autism (2). Microcephaly of affected girls has been reported (2)(3)(4)(5), and histological findings include reduced neuron size (6).…”

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confidence: 99%

Transcriptional profiling of a mouse model for Rett syndrome reveals subtle transcriptional changes in the brain

Tudor

Akbarian

Chen

et al. 2002

Proc. Natl. Acad. Sci. U.S.A.

314

214

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The Mecp2 gene has been shown to be mutated in most cases of human Rett syndrome, and mouse models deleted for the ortholog have been generated. Lineage-specific deletion of the gene indicated that the Rett-like phenotype is caused by Mecp2 deficiency in neurons. Biochemical evidence suggests that Mecp2 acts as a global transcriptional repressor, predicting that mutant mice should have genome-wide transcriptional deregulation. We tested this hypothesis by comparing global gene expression in wild-type and Mecp2 mutant mice. The results of numerous microarray analyses revealed no dramatic changes in transcription even in mice displaying overt disease symptoms, although statistical power analyses of the data indicated that even a small number of relatively subtle changes in transcription would have been detected if present. However, a classifier consisting of a combined small set of genes was able to distinguish between mutant and wild-type samples with high accuracy. This result suggests that Mecp2 deficiency leads to subtle gene expression changes in mutant brains which may be associated with the phenotypic changes observed.

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Two affected boys in a Rett syndrome family

Abstract: An MECP2 mutation can be identified in boys, even though they do not present a Rett syndrome phenotype.

Cited by 180 publications

References 15 publications

Rett syndrome: new clinical and molecular insights

Rett syndrome: new clinical and molecular insights

RettBASE: The IRSA MECP2 variation database—a new mutation database in evolution

Transcriptional profiling of a mouse model for Rett syndrome reveals subtle transcriptional changes in the brain

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