Case Report: Deletion in the 5' untranslated region of TAFAZZIN in a boy with Barth syndrome
We report a novel 116 bp <i>TAFAZZIN</i> deletion that prevents protein expression due to the loss of the canonical start codon. This case highlights the importance of including non-coding regions in genetic analysis and the diagnostic value of phenotype-guided reanalysis of genetic test data.
Authors
- S. Lal
- Richard Z. Lin (ORCID: https://orcid.org/0000-0002-3967-0859)
- Ingrid King (ORCID: https://orcid.org/0000-0002-3970-9186)
- E. Singer
- Richard D. Bagnall (ORCID: https://orcid.org/0000-0002-2476-9864)
- A. Morrish
- Janine A. Smith (ORCID: https://orcid.org/0000-0002-0218-8938)
- Claire Irving
- Charlene Casey
- Robert G. Weintraub
Institutions
- The University of Sydney (AU)
- Royal Children's Hospital (AU)
- The University of Melbourne (AU)
- Centenary Institute (AU)
- Children's Hospital at Westmead (AU)
- Royal Hospital for Sick Children (GB)
- Murdoch Children's Research Institute (AU)
Publication Details
- Journal
- Frontiers in Cardiovascular Medicine
- Published
- 2026-02-16
- DOI
- https://doi.org/10.3389/fcvm.2026.1766067
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Australian Government