ArticleAmerican journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics2008
Analysis of X chromosome inactivation in autism spectrum disorders.
Article in American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
21 citing papers in PubMed, 58 citations in OpenAlex.
- Spared cognitive and social function following perinatal ablation of ATRX despite transient microglia dysregulation.Scientific reports · 2026Article
- A mouse model of ATRX deficiency with cognitive deficits and autistic traits.Journal of neurodevelopmental disorders · 2023Article
- The genetics of autism and steroid-related traits in prenatal and postnatal life.Frontiers in endocrinology · 2023Article
- Long noncoding RNAGenes & diseases · 2022Review
- The Impact of X-Chromosome Inactivation on Phenotypic Expression of X-Linked Neurodevelopmental Disorders.Brain sciences · 2021Review
- No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia.Orphanet journal of rare diseases · 2021Article
- A new sex-specific underlying mechanism for female schizophrenia: accelerated skewed X chromosome inactivation.Biology of sex differences · 2020Article
- Effects of a postnatal Atrx conditional knockout in neurons on autism-like behaviours in male and female mice.Journal of neurodevelopmental disorders · 2020Article
- Sex Differences in Autism Spectrum Disorder: a Review.Current psychiatry reports · 2018Review
- Epigenetics and cerebral organoids: promising directions in autism spectrum disorders.Translational psychiatry · 2018Review
- Into the Fourth Dimension: Dysregulation of Genome Architecture in Aging and Alzheimer's Disease.Frontiers in molecular neuroscience · 2018Review
- Sex chromosome abnormalities and psychiatric diseases.Oncotarget · 2017Review
- Complexities of X chromosome inactivation status in female human induced pluripotent stem cells-a brief review and scientific update for autism research.Journal of neurodevelopmental disorders · 2016Review
- A review of the role of female gender in autism spectrum disorders.Journal of autism and developmental disorders · 2013Review
- DISC1 regulates synaptic vesicle transport via a lithium-sensitive pathway.Neuroscience research · 2011Article
- Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders.Human molecular genetics · 2011Article
- Why are autism spectrum conditions more prevalent in males?PLoS biology · 2011Review
- The MECP2 duplication syndrome.American journal of medical genetics. Part A · 2010Review
- An investigation of ribosomal protein L10 gene in autism spectrum disorders.BMC medical genetics · 2009Article
- Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist.Journal of medical genetics · 2009Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
26 authors at 9 institutions in 4 countries.
Funding
Abstract
Autism spectrum disorders (ASD) are complex genetic disorders more frequently observed in males. Skewed X chromosome inactivation (XCI) is observed in heterozygous females carrying gene mutations involved in several X-linked syndromes. In this study, we aimed to estimate the role of X-linked genes in ASD susceptibility by ascertaining the XCI pattern in a sample of 543 informative mothers of children with ASD and in a sample of 163 affected girls. The XCI pattern was also determined in two control groups (144 adult females and 40 young females) with a similar age distribution to the mothers sample and affected girls sample, respectively. We observed no significant excess of skewed XCI in families with ASD. Interestingly, two mothers and one girl carrying known mutations in X-linked genes (NLGN3, ATRX, MECP2) showed highly skewed XCI, suggesting that ascertainment of XCI could reveal families with X-linked mutations. Linkage analysis was carried out in the subgroup of multiplex families with skewed XCI (> or = 80:20) and a modest increased allele sharing was obtained in the Xq27-Xq28 region, with a peak Z-score of 1.75 close to rs719489. In summary, our results suggest that there is no major X-linked gene subject to XCI and expressed in blood cells conferring susceptibility to ASD. However, the possibility that rare mutations in X-linked genes could contribute to ASD cannot be excluded. We propose that the XCI profile could be a useful criteria to prioritize families for mutation screening of X-linked candidate genes.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.