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Page 296 Kenneson et al. J Transl Genet Genom 2024;8:285-97 https://dx.doi.org/10.20517/jtgg.2024.22

The interpretation of results and preparation of the manuscript: Kenneson A, Huang Y, Lontok E,
Marjoram L
Conducted the analyses: Kenneson A, Huang Y

Availability of data and materials
The data that support the findings of this study are available from the corresponding author upon
reasonable request.

Financial support and sponsorship
This project was supported by the Barth Syndrome Foundation ( charity #22-3755704, barthsyndrome.org)
and by the Southeast Regional Genetics Network (southeastgenetics.org). SERN is funded by the Health
Resources and Services Administration of the U.S. Department of Health and Human Service as part of an
award totaling $600,000 to Emory University (grant # 5UH7MC30772-06-00). The views expressed are
those of the authors and do not necessarily represent the official views or endorsements of HRSA, HHS, or
the U.S. Government. For more information, please visit HRSA.gov.

Conflicts of interest
All authors declared that there are no conflicts of interest.

Ethical approval and consent to participate
This study was carried out in accordance with the World Medical Association Declaration of Helsinki.
Institutional Review Board approval of the Barth Syndrome Registry and Repository was obtained from
North Star Review Board (IRB #: NB300158). Registry participants completed informed consent before
entering data into the registry.

Consent for publication
Not applicable.

Copyright
© The Author(s) 2024.

REFERENCES
1. Ferreira C, Pierre G, Thompson R, et al. Barth Syndrome. Available from: https://www.ncbi.nlm.nih.gov/books/NBK247162/ [Last
accessed on 13 Sep 2024].
2. Gonzalez IL. Barth syndrome: TAZ gene mutations, mRNAs, and evolution. Am J Med Genet A 2005;134:409-14. DOI PubMed
3. 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;12:385-9. DOI PubMed
4. Cosson L, Toutain A, Simard G, et al. Barth syndrome in a female patient. Mol Genet Metab 2012;106:115-120. DOI
5. Avdjieva-Tzavella DM, Todorova AP, Kathom HM, et al. Barth syndrome in male and female siblings caused by a novel mutation in
the TAZ gene. Genetic Counseling 2016;27:495-501. PubMed
6. Xu Y, Malhotra A, Ren M, Schlame M. The enzymatic function of tafazzin. J Biol Chem 2006;281:39217-24. DOI PubMed
7. Schlame M, Xu Y. The function of tafazzin, a mitochondrial phospholipid–lysophospholipid acyltransferase. J Mol Biol
2020;432:5043-51. DOI PubMed PMC
8. Kagan VE, Tyurina YY, Mikulska-Ruminksa K, et al. Anomalous peroxidase activity of cytochrome c is the primary pathogenic target
in Barth syndrome. Nature Metabolism 2023;5:2184-205. DOI PubMed PMC
9. Ji J, Greenberg ML. Cardiolipin function in the yeast S: cerevisiae and the lessons learned for Barth syndrome. J Inherit Metab Dis
2022;45:60-71. DOI PubMed PMC
10. Paradies G, Paradies V, Ruggiero FM, Petrosillo G. Role of cardiolipin in mitochondrial function and dynamics in health and disease:
molecular and pharmacological aspects. Cells 2019;8:728. DOI PubMed PMC
11. Ren M, Miller PC, Schlame M, Phoon CK. A critical appraisal of the tafazzin knockdown mouse model of Barth syndrome: what have
we learned about pathogenesis and potential treatments? Am J Physiol Heart Circ Physiol 2019;317:H1183-H1193. DOI PubMed
PMC