A comparative study of X‐inactivation in Rett syndrome probands and control subjects

Webb, T.; Watkiss, E.

doi:10.1111/j.1399-0004.1996.tb03285.x

Cited by 18 publications

(2 citation statements)

References 21 publications

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“…This phenomenon may be caused by the postinactivation cell selection. For in our study as well as others, the predominantly inactivated X chromosome was of paternal origin in most of the cases with skewed XCI, 6,7,10,19,20 and previous studies showed most of the mutated MECP2 were de novo and paternally derived in the sporadic cases. 21,22 Therefore, the change of the XCI distribution in RTT patients could owe to postinactivation selection against one of the cell types expressing the mutant MECP2 allele.…”

Section: Discussionsupporting

confidence: 82%

X Chromosome Inactivation in Rett Syndrome and Its Correlations With MeCP2 Mutations and Phenotype

et al. 2007

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Rett syndrome (RTT) is an X-linked dominant neurodevelopment disorder, which is mainly caused by gene mutation of methyl-CpG-binding protein 2 (MECP2). The correlations between genotype, X chromosome inactivation (XCI), and phenotype have been studied, but the results are conflicting. In the present study, XCI patterns in patients and their mothers, parental origin of skewed X chromosome in patients, and the correlations between XCI, genotype, and phenotype were analyzed in 52 cases of RTT with MECP2 mutations, 50 RTT mothers, and 48 normal female controls. The results showed XCI and genotype had limitations in explaining all the phenotypic manifestations of RTT. Other genomic factors have to be considered to explain the phenotypic differences.

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Section: Discussionsupporting

confidence: 82%

X Chromosome Inactivation in Rett Syndrome and Its Correlations With MeCP2 Mutations and Phenotype

et al. 2007

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“…Epigenetic defects, including abnormal methylation patterns, have been implicated in idiopathic ASDs (Jiang et al 2004;Schanen 2006) as well as ASD-associated syndromes such as the Prader-Willi/ Angelman syndromes (PWS/AS) (Schanen 2006;Hogart et al 2007;Bittel et al 2007), Rett syndrome (Webb and Watkiss 1996;Krepischi et al 1998;Ghosh et al 2008) and Fragile-X syndrome (Tabolacci et al 2005;Schanen 2006). Epigenetic modifications by methylation are particularly important to parent-of-origin specific methylation and gene expression patterns that are essential for brain development, brain growth, cognitive function, and behavior (Isles and Wilkinson 2000;Reik and Walter 2001;Goos and Silverman 2001;Davies et al 2005).…”

Section: Introductionmentioning

confidence: 98%

Population- and Family-Based Studies Associate the MTHFR Gene with Idiopathic Autism in Simplex Families

Solehdin

Cohen

et al. 2010

J Autism Dev Disord

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Two methylenetetrahydrofolate reductase gene (MTHFR) functional polymorphisms were studied in 205 North American simplex (SPX) and 307 multiplex (MPX) families having one or more children with an autism spectrum disorder. Case-control comparisons revealed a significantly higher frequency of the low-activity 677T allele, higher prevalence of the 677TT genotype and higher frequencies of the 677T-1298A haplotype and double homozygous 677TT/1298AA genotype in affected individuals relative to controls. Family-based association testing demonstrated significant preferential transmission of the 677T and 1298A alleles and the 677T-1298A haplotype to affected offspring. The results were not replicated in MPX families. The results associate the MTHFR gene with autism in SPX families only, suggesting that reduced MTHFR activity is a risk factor for autism in these families.

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Review and meta‐analysis of systematic searches for uniparental disomy (UPD) other than UPD 15

Kotzot

2002

Am. J. Med. Genet.

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All systematic searches for uniparental disomy (UPD) so far published and comprising clinically defined populations (Silver-Russell syndrome/primordial growth retardation (SRS/PGR) (n = 14), multiple malformations (n = 2), or rare syndromes (n = 12)) or situations at risk (confined placental mosaicism (CPM) (n = 13), spontaneous abortions (n = 6), additional marker chromosomes (n = 15), balanced non-Robertsonian translocations (n = 3), or balanced Robertsonian translocations (n = 15)) were reviewed. In many studies clinical and/or cytogenetic information on fluorescent in situ hybridization (FISH) results was very scarce. Meta-analysis concerning an adequate number of cases was possible for SRS/PGR, CPM, additional marker chromosomes, and balanced Robertsonian translocations only. As expected, the highest risk for UPD was found in cases with translocations between homologous acrocentric chromosomes (11 cases with UPD of 15 investigated) and in CPM due to a meiotic error (25 of 51 cases). In prenatal investigations or in cases with a normal phenotype, translocations between nonhomologous acrocentric chromosomes implied a risk for UPD of less than 0.5%. The risks for maternal UPD 7 in cases with SRS/PGR, for UPD 15 in cases with an additional inv dup(15) marker chromosome, and for UPD of any chromosome in cases with multiple malformation/mental retardation were approximately 5.5%, and approximately 1.3%, respectively. Searches for UPD in well-defined syndromes (Brachmann-De Lange syndrome, Sotos syndrome, Rett syndrome, Weaver syndrome, or XX true hermaphroditism) were disappointing. Not a single case was found.

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A comparative study of X‐inactivation in Rett syndrome probands and control subjects

Cited by 18 publications

References 21 publications

X Chromosome Inactivation in Rett Syndrome and Its Correlations With MeCP2 Mutations and Phenotype

X Chromosome Inactivation in Rett Syndrome and Its Correlations With MeCP2 Mutations and Phenotype

Population- and Family-Based Studies Associate the MTHFR Gene with Idiopathic Autism in Simplex Families

Review and meta‐analysis of systematic searches for uniparental disomy (UPD) other than UPD 15

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