ArticleAmerican journal of human genetics2002
Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders.
Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 110 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
110 citing papers in PubMed, 1 synthesis or guideline pooled it.
- XLA-MTS: a distinct clinical genetic entity characterized by immunodeficiency and neurodevelopmental delay.Orphanet journal of rare diseases · 2026Pooled it
- X chromosome-wide association studies for quantitative trait loci based on the mixture of general pedigrees and additional unrelated individuals.Briefings in bioinformatics · 2026Article
- From inactivation to intervention: X chromosome silencing in disease pathogenesis and emerging therapeutic strategies.Genes & diseases · 2026Review
- The Recycling Endosomal (NaActa physiologica (Oxford, England) · 2026Article
- X-linked competition - implications for human development and disease.Nature reviews. Genetics · 2025Review
- Xist condensates: perspectives for therapeutic intervention.Genome biology · 2025Review
- Prevalence of CNVs on the X chromosome in patients with neurodevelopmental disorders.Molecular cytogenetics · 2025Article
- Article
- The gender-sensitive spectrum of neurodevelopmental disorders: a case report on aFrontiers in psychiatry · 2025Article
- Population variability in X-chromosome inactivation across 10 mammalian species.Nature communications · 2024Article
- A repository of Ogden syndrome patient derived iPSC lines and isogenic pairs by X-chromosome screening and genome-editing.bioRxiv : the preprint server for biology · 2024Article
- O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome.The Journal of biological chemistry · 2024Review
- Distributed X chromosome inactivation in brain circuitry is associated with X-linked disease penetrance of behavior.Cell reports · 2024Article
- Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease.BMC genomics · 2024Article
- Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.American journal of human genetics · 2024Article
- Identification of a DLG3 stop mutation in the MRX20 family.European journal of human genetics : EJHG · 2024Article
- Rett Syndrome and the Role of MECP2: Signaling to Clinical Trials.Brain sciences · 2024Review
- Review
- The transcriptional legacy of developmental stochasticity.Nature communications · 2023Article
- Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes.European journal of human genetics : EJHG · 2023Article
50 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
Abstract
Some deleterious X-linked mutations may result in a growth disadvantage for those cells in which the mutation, when on the active X chromosome, affects cell proliferation or viability. To explore the relationship between skewed X-chromosome inactivation and X-linked mental retardation (XLMR) disorders, we used the androgen receptor X-inactivation assay to determine X-inactivation patterns in 155 female subjects from 24 families segregating 20 distinct XLMR disorders. Among XLMR carriers, approximately 50% demonstrate markedly skewed X inactivation (i.e., patterns > or =80:20), compared with only approximately 10% of female control subjects (P<.001). Thus, skewed X inactivation is a relatively common feature of XLMR disorders. Of the 20 distinct XLMR disorders, 4 demonstrate a strong association with skewed X inactivation, since all carriers of these mutations demonstrate X-inactivation patterns > or =80:20. The XLMR mutations are present on the preferentially inactive X chromosome in all 20 informative female subjects from these families, indicating that skewing is due to selection against those cells in which the XLMR mutation is on the active X chromosome.
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