ArticleAmerican journal of human genetics1997
Familial skewed X inactivation: a molecular trait associated with high spontaneous-abortion rate maps to Xq28.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 2 of them syntheses that pooled it.
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Who cites it
33 citing papers in PubMed, 2 syntheses or guidelines pooled it, 139 citations in OpenAlex.
- Immunotherapy for recurrent miscarriage.The Cochrane database of systematic reviews · 2014Pooled it
- Genetic evaluation and counseling of couples with recurrent miscarriage: recommendations of the National Society of Genetic Counselors.Journal of genetic counseling · 2005Guideline
- Hybridization capture long-read sequencing and de novo assembly of homologous haplotypes: a comprehensive hemophilia test.Blood advances · 2025Article
- Optical genome mapping identified deletions, inversions, and insertions in hemophilia.Blood advances · 2025Article
- Investigation of androgen receptor CAG repeats length in polycystic ovary syndrome diagnosed using the new international evidence-based guideline.Journal of ovarian research · 2023Article
- Molecular Mechanisms of Skewed X-Chromosome Inactivation in Female Hemophilia Patients-Lessons from Wide Genome Analyses.International journal of molecular sciences · 2021Article
- Demonstration of a novel Xp22.2 microdeletion as the cause of familial extreme skewing of X-inactivation utilizing case-parent trio SNP microarray analysis.Molecular genetics & genomic medicine · 2018Article
- Intragenomic Conflict and Immune Tolerance: Do Selfish X-Linked Alleles Drive Skewed X Chromosome Inactivation?Genome biology and evolution · 2018Article
- Human X chromosome inactivation and reactivation: implications for cell reprogramming and disease.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2017Review
- A Review of Autoimmune Disease Hypotheses with Introduction of the "Nucleolus" Hypothesis.Clinical reviews in allergy & immunology · 2017Review
- Complexity and diversity of F8 genetic variations in the 1000 genomes.Journal of thrombosis and haemostasis : JTH · 2015Article
- The human sex ratio from conception to birth.Proceedings of the National Academy of Sciences of the United States of America · 2015Article
- Intron 22 homologous regions are implicated in exons 1-22 duplications of the F8 gene.European journal of human genetics : EJHG · 2013Article
- Identification of Xq22.1-23 as a region linked with hereditary recurrent spontaneous abortion in a family.Iranian journal of reproductive medicine · 2013Article
- Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy.Orphanet journal of rare diseases · 2012Article
- Copy number changes on the X chromosome in women with and without highly skewed X-chromosome inactivation.Cytogenetic and genome research · 2012Article
- Article
- Phenotypic annotation of the mouse X chromosome.Genome research · 2010Article
- Skewed X chromosome inactivation and trisomic spontaneous abortion: no association.American journal of human genetics · 2009Article
- Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita.Journal of medical genetics · 2008Article
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6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report a family ascertained for molecular diagnosis of muscular dystrophy in a young girl, in which preferential activation (> or = 95% of cells) of the paternal X chromosome was seen in both the proband and her mother. To determine the molecular basis for skewed X inactivation, we studied X-inactivation patterns in peripheral blood and/or oral mucosal cells from 50 members of this family and from a cohort of normal females. We found excellent concordance between X-inactivation patterns in blood and oral mucosal cell nuclei in all females. Of the 50 female pedigree members studied, 16 showed preferential use (> or = 95% cells) of the paternal X chromosome; none of 62 randomly selected females showed similarly skewed X inactivation was maternally inherited in this family. A linkage study using the molecular trait of skewed X inactivation as the scored phenotype localized this trait to Xq28 (DXS1108; maximum LOD score [Zmax] = 4.34, recombination fraction [theta] = 0). Both genotyping of additional markers and FISH of a YAC probe in Xq28 showed a deletion spanning from intron 22 of the factor VIII gene to DXS115-3. This deletion completely cosegregated with the trait (Zmax = 6.92, theta = 0). Comparison of clinical findings between affected and unaffected females in the 50-member pedigree showed a statistically significant increase in spontaneous-abortion rate in the females carrying the trait (P < .02). To our knowledge, this is the first gene-mapping study of abnormalities of X-inactivation patterns and is the first association of a specific locus for recurrent spontaneous abortion in a cytogenetically normal family. The involvement of this locus in cell lethality, cell-growth disadvantage, developmental abnormalities, or the X-inactivation process is discussed.
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