X chromosome inactivation in carriers of Barth syndrome

Karen Helene Ørstavik, Ragnhild E. Ørstavik, Anna K. Naumova, Patrizia D'Adamo, Agi Gedeon, Pieter A. Bolhuis, Peter G. Barth, Daniela Toniolo

Research output: Contribution to journalArticle


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-

Original languageEnglish
Pages (from-to)1457-1463
Number of pages7
JournalAmerican Journal of Human Genetics
Issue number5
Publication statusPublished - 1998

ASJC Scopus subject areas

  • Genetics

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    Ørstavik, K. H., Ørstavik, R. E., Naumova, A. K., D'Adamo, P., Gedeon, A., Bolhuis, P. A., Barth, P. G., & Toniolo, D. (1998). X chromosome inactivation in carriers of Barth syndrome. American Journal of Human Genetics, 63(5), 1457-1463. https://doi.org/10.1086/302095