ArticleAmerican journal of human genetics1998
X chromosome inactivation in carriers of Barth syndrome.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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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
21 citing papers in PubMed.
- Barth Syndrome:Genes · 2025Review
- X-inactive specific transcript (XIST) can determine sex differences in cardiovascular drug responses: focus on RNA therapeutics.Frontiers in pharmacology · 2025Article
- Phenotypic Characterization of Female Carrier Mice Heterozygous for Tafazzin Deletion.Biology · 2023Article
- Studying Lipid-Related Pathophysiology Using the Yeast Model.Frontiers in physiology · 2021Review
- Role ofJournal of developmental biology · 2020Review
- Catalytic deficiency of O-GlcNAc transferase leads to X-linked intellectual disability.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability.European journal of human genetics : EJHG · 2018Article
- Buccal swab as a reliable predictor for X inactivation ratio in inaccessible tissues.Journal of medical genetics · 2015Article
- Respiratory supercomplexes: plasticity and implications.Frontiers in bioscience (Landmark edition) · 2015Review
- Disorders of phospholipid metabolism: an emerging class of mitochondrial disease due to defects in nuclear genes.Frontiers in genetics · 2015Review
- Barth Syndrome: From Mitochondrial Dysfunctions Associated with Aberrant Production of Reactive Oxygen Species to Pluripotent Stem Cell Studies.Frontiers in genetics · 2015Review
- Respiratory supercomplexes: structure, function and assembly.Protein & cell · 2013Review
- Natural history of Barth syndrome: a national cohort study of 22 patients.Orphanet journal of rare diseases · 2013Article
- Barth syndrome.Orphanet journal of rare diseases · 2013Review
- Differing clinical courses and outcomes in two siblings with Barth syndrome and left ventricular noncompaction.European journal of pediatrics · 2012Article
- X chromosome inactivation in clinical practice.Human genetics · 2009Review
- Analysis of X chromosome inactivation in autism spectrum disorders.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2008Article
- Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil?Current opinion in allergy and clinical immunology · 2007Review
- High frequency of skewed X inactivation in young breast cancer patients.Journal of medical genetics · 2002Article
- X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060).Journal of inherited metabolic disease · 1999Review
Corrections and comments
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Authors and funding
8 authors.
Funding
Abstract
Barth syndrome (BTHS) is a rare X-linked recessive disorder characterized by cardiac and skeletal myopathy, neutropenia, and short stature. A gene for BTHS, G4.5, was recently cloned and encodes several novel proteins, named "tafazzins." Unique mutations have been found. No correlation between the location or type of mutation and the phenotype of BTHS has been found. Female carriers of BTHS seem to be healthy. This could be due to a selection against cells that have the mutant allele on the active X chromosome. We therefore analyzed X chromosome inactivation in 16 obligate carriers of BTHS, from six families, using PCR in the androgen-receptor locus. An extremely skewed X-inactivation pattern (>=95:5), not found in 148 female controls, was found in six carriers. The skewed pattern in two carriers from one family was confirmed in DNA from cultured fibroblasts. Five carriers from two families had a skewed pattern (80:20-<95:5), a pattern that was found in only 11 of 148 female controls. Of the 11 carriers with a skewed pattern, the parental origin of the inactive X chromosome was maternal in all seven cases for which this could be determined. In two families, carriers with an extremely skewed pattern and carriers with a random pattern were found. The skewed X inactivation in 11 of 16 carriers is probably the result of a selection against cells with the mutated gene on the active X chromosome. Since BTHS also shows great clinical variation within families, additional factors are likely to influence the expression of the phenotype. Such factors may also influence the selection mechanism in carriers.
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