ArticleOrphanet journal of rare diseases2012
Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy.
Article in Orphanet journal of rare diseases, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 53 citations in OpenAlex.
- Characterization of Dystrophin-Related Syndromes: Carriers, DMD, and BMD.Muscles (Basel, Switzerland) · 2026Review
- An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy.International journal of molecular sciences · 2024Article
- Draft Guidance for Industry Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and Related Dystrophinopathies - Developing Potential Treatments for the Entire Spectrum of Disease.Journal of neuromuscular diseases · 2024Article
- Heart Disease in Mothers of Children with Duchenne Muscular Dystrophy.Current cardiology reviews · 2024Review
- Treatment with ataluren in four symptomatic Duchenne carriers. A pilot study.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2024Article
- Phenotypic features of genetically modifiedRegenerative therapy · 2023Article
- A novel quantitative targeted analysis of X-chromosome inactivation (XCI) using nanopore sequencing.Scientific reports · 2023Article
- Dystrophin myonuclear domain restoration governs treatment efficacy in dystrophic muscle.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Can symptomatic nmDuchenne carriers benefit from treatment with ataluren? Results of 193-month follow-up.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2021Article
- Clinical application of an NGS-based method in the preimplantation genetic testing for Duchenne muscular dystrophy.Journal of assisted reproduction and genetics · 2021Article
- Evaluating, Filtering and Clustering Genetic Disease Cohorts Based on Human Phenotype Ontology Data with Cohort Analyzer.Journal of personalized medicine · 2021Article
- Quantitative Muscle MRI and Clinical Findings in Women With Pathogenic Dystrophin Gene Variants.Frontiers in neurology · 2021Article
- Cardiac Involvement in Women With Pathogenic Dystrophin Gene Variants.Frontiers in neurology · 2021Article
- Connexin-43 reduction prevents muscle defects in a mouse model of manifesting Duchenne muscular dystrophy female carriers.Scientific reports · 2020Article
- Article
- Clinical and genetic characteristics of female dystrophinopathy carriers.Molecular medicine reports · 2019Article
- Gestational Outcomes of Pregnant Women Who Have Had Invasive Prenatal Testing for the Prenatal Diagnosis of Duchenne Muscular Dystrophy.Journal of pregnancy · 2018Article
- Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.Human mutation · 2016Article
- Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy.Human genetics · 2016Review
- Clinical and Genetic Characterization of Female Dystrophinopathy.Journal of clinical neurology (Seoul, Korea) · 2015Article
Corrections and comments
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Authors and funding
23 authors at 12 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundBetween 8% and 22% of female carriers of DMD mutations exhibit clinical symptoms of variable severity. Development of symptoms in DMD mutation carriers without chromosomal rearrangements has been attributed to skewed X-chromosome inactivation (XCI) favouring predominant expression of the DMD mutant allele. However the prognostic use of XCI analysis is controversial. We aimed to evaluate the correlation between X-chromosome inactivation and development of clinical symptoms in a series of symptomatic female carriers of dystrophinopathy.
methodsWe reviewed the clinical, pathological and genetic features of twenty-four symptomatic carriers covering a wide spectrum of clinical phenotypes. DMD gene analysis was performed using MLPA and whole gene sequencing in blood DNA and muscle cDNA. Blood and muscle DNA was used for X-chromosome inactivation (XCI) analysis thought the AR methylation assay in symptomatic carriers and their female relatives, asymptomatic carriers as well as non-carrier females.
resultsSymptomatic carriers exhibited 49.2% more skewed XCI profiles than asymptomatic carriers. The extent of XCI skewing in blood tended to increase in line with the severity of muscle symptoms. Skewed XCI patterns were found in at least one first-degree female relative in 78.6% of symptomatic carrier families. No mutations altering XCI in the XIST gene promoter were found.
conclusionsSkewed XCI is in many cases familial inherited. The extent of XCI skewing is related to phenotype severity. However, the assessment of XCI by means of the AR methylation assay has a poor prognostic value, probably because the methylation status of the AR gene in muscle may not reflect in all cases the methylation status of the DMD gene.
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