ArticlePloS one2013
Familial skewed x chromosome inactivation in adrenoleukodystrophy manifesting heterozygotes from a Chinese pedigree.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 22 citations in OpenAlex.
- From inactivation to intervention: X chromosome silencing in disease pathogenesis and emerging therapeutic strategies.Genes & diseases · 2026Review
- Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant.Scientific reports · 2024Article
- Pathophysiology of X-Linked Adrenoleukodystrophy: Updates on Molecular Mechanisms.Journal of biotechnology and biomedicine · 2024Article
- X-linked adrenoleukodystrophy caused by maternal ABCD1 mutation and paternal X chromosome inactivation.Experimental and therapeutic medicine · 2022Article
- The Impact of X-Chromosome Inactivation on Phenotypic Expression of X-Linked Neurodevelopmental Disorders.Brain sciences · 2021Review
- Deciphering the modifiers for phenotypic variability of X-linked adrenoleukodystrophy.World journal of biological chemistry · 2020Review
- Clinical characteristics and phenotype distribution in 10 Chinese patients with X-linked adrenoleukodystrophy.Experimental and therapeutic medicine · 2019Article
- Skewed X-inactivation is common in the general female population.European journal of human genetics : EJHG · 2019Article
- Concise Review: Age-Related Clonal Hematopoiesis: Stem Cells Tempting the Devil.Stem cells (Dayton, Ohio) · 2018Review
- Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies.BMC medical genetics · 2018Article
- Identification of a Missense Mutation in the α-galactosidase A Gene in a Chinese Family with Fabry Disease.Current genomics · 2018Review
- De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.Journal of medical genetics · 2016Article
- Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy.World journal of pediatrics : WJP · 2015Article
- Progression rate of myelopathy in X-linked adrenoleukodystrophy heterozygotes.Metabolic brain disease · 2015Article
- The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis.The application of clinical genetics · 2015Review
- Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Human genetics · 2013Review
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundX-linked adrenoleukodystrophy (X-ALD) is an inherited neurodegenerative disorder caused by mutations in the ABCD1 gene. Approximately 20% of X-ALD female carriers may develop neurological symptoms. Skewed X chromosome inactivation (XCI) has been proposed to influence the manifestation of symptoms in X-ALD carriers, but data remain conflicting so far. We identified a three generation kindred, with five heterozygous females, including two manifesting carriers. XCI pattern and the ABCD1 allele expression were assessed in order to determine if symptoms in X-ALD carriers could be related to skewed XCI and whether skewing within this family is more consistent with genetically influenced or completely random XCI.
resultsWe found a high frequency of skewing in this family. Four of five females had skewed XCI, including two manifesting carriers favoring the mutant allele, one asymptomatic carrier favoring the normal allele, and one female who was not an X-ALD carrier. Known causes of skewing, such as chromosomal abnormalities, selection against deleterious alleles, XIST promoter mutations, were not consistent with our results.
conclusionsOur data support that skewed XCI in favor of the mutant ABCD1 allele would be associated with the manifestation of heterozygous symptoms. Furthermore, XCI skewing in this family is genetically influenced. However, the underlying mechanism remains to be substantiated by further experiments.
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