A novel X-linked gene, G4.5. is responsible for Barth syndrome

Silvia Bione, Patrizia D'Adamo, Elena Maestrini, Agi K. Gedeon, Pieter A. Bolhuis, Daniela Toniolo

Research output: Contribution to journalArticle

Abstract

Barth Syndrome is a severe inherited disorder, often fatal in childhood, characterized by cardiac and skeletal myopathy, short stature and neutropenia. The disease has been mapped to a very gene-rich region in distal portion of Xq28. We now report the identification of unique mutations in one of the genes in this region, termed G4.5, expressed at high level in cardiac and skeletal muscle. Different mRNAs can be produced by alternative splicing of the primary G4.5 transcript, encoding novel proteins that differ at the N terminus and in the central region. The mutations introduce stop codons in the open reading frame interrupting translation of most of the putative proteins (which we term 'tafazzins'). Our results suggest that G4.5 is the genetic locus responsible for the Barth syndrome.

Original languageEnglish
Pages (from-to)385-389
Number of pages5
JournalNature Genetics
Volume12
Issue number4
DOIs
Publication statusPublished - Apr 1996

Fingerprint

Barth Syndrome
X-Linked Genes
Mutation
Genetic Loci
Terminator Codon
Alternative Splicing
Muscular Diseases
Neutropenia
Open Reading Frames
Genes
Myocardium
Skeletal Muscle
Proteins
Messenger RNA

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Bione, S., D'Adamo, P., Maestrini, E., Gedeon, A. K., Bolhuis, P. A., & Toniolo, D. (1996). A novel X-linked gene, G4.5. is responsible for Barth syndrome. Nature Genetics, 12(4), 385-389. https://doi.org/10.1038/ng0496-385

A novel X-linked gene, G4.5. is responsible for Barth syndrome. / Bione, Silvia; D'Adamo, Patrizia; Maestrini, Elena; Gedeon, Agi K.; Bolhuis, Pieter A.; Toniolo, Daniela.

In: Nature Genetics, Vol. 12, No. 4, 04.1996, p. 385-389.

Research output: Contribution to journalArticle

Bione, S, D'Adamo, P, Maestrini, E, Gedeon, AK, Bolhuis, PA & Toniolo, D 1996, 'A novel X-linked gene, G4.5. is responsible for Barth syndrome', Nature Genetics, vol. 12, no. 4, pp. 385-389. https://doi.org/10.1038/ng0496-385
Bione S, D'Adamo P, Maestrini E, Gedeon AK, Bolhuis PA, Toniolo D. A novel X-linked gene, G4.5. is responsible for Barth syndrome. Nature Genetics. 1996 Apr;12(4):385-389. https://doi.org/10.1038/ng0496-385
Bione, Silvia ; D'Adamo, Patrizia ; Maestrini, Elena ; Gedeon, Agi K. ; Bolhuis, Pieter A. ; Toniolo, Daniela. / A novel X-linked gene, G4.5. is responsible for Barth syndrome. In: Nature Genetics. 1996 ; Vol. 12, No. 4. pp. 385-389.
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