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

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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-

Original languageEnglish
Pages (from-to)1457-1463
Number of pages7
JournalAmerican Journal of Human Genetics
Volume63
Issue number5
DOIs
Publication statusPublished - 1998

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Barth Syndrome
X Chromosome Inactivation
Mutation
Androgen Receptors
X Chromosome
Muscular Diseases
Neutropenia
Fibroblasts
Alleles
Phenotype
Polymerase Chain Reaction
DNA
Genes

ASJC Scopus subject areas

  • Genetics

Cite this

Ørstavik, K. H., Ørstavik, R. E., Naumova, A. K., D'Adamo, P., Gedeon, A., Bolhuis, P. A., ... 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

X chromosome inactivation in carriers of Barth syndrome. / Ørstavik, Karen Helene; Ørstavik, Ragnhild E.; Naumova, Anna K.; D'Adamo, Patrizia; Gedeon, Agi; Bolhuis, Pieter A.; Barth, Peter G.; Toniolo, Daniela.

In: American Journal of Human Genetics, Vol. 63, No. 5, 1998, p. 1457-1463.

Research output: Contribution to journalArticle

Ørstavik, KH, Ørstavik, RE, Naumova, AK, D'Adamo, P, Gedeon, A, Bolhuis, PA, Barth, PG & Toniolo, D 1998, 'X chromosome inactivation in carriers of Barth syndrome', American Journal of Human Genetics, vol. 63, no. 5, pp. 1457-1463. https://doi.org/10.1086/302095
Ørstavik KH, Ørstavik RE, Naumova AK, D'Adamo P, Gedeon A, Bolhuis PA et al. X chromosome inactivation in carriers of Barth syndrome. American Journal of Human Genetics. 1998;63(5):1457-1463. https://doi.org/10.1086/302095
Ørstavik, Karen Helene ; Ørstavik, Ragnhild E. ; Naumova, Anna K. ; D'Adamo, Patrizia ; Gedeon, Agi ; Bolhuis, Pieter A. ; Barth, Peter G. ; Toniolo, Daniela. / X chromosome inactivation in carriers of Barth syndrome. In: American Journal of Human Genetics. 1998 ; Vol. 63, No. 5. pp. 1457-1463.
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