{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T12:21:41Z","timestamp":1771935701728,"version":"3.50.1"},"reference-count":22,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,2,16]],"date-time":"2026-02-16T00:00:00Z","timestamp":1771200000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Cardiovasc. Med."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Barth syndrome is an X-linked disorder characterised by cardiomyopathy, growth abnormalities, neutropenia, and 3-methylglutaconic aciduria. It is caused by pathogenic variants in\n                      <jats:italic>TAFAZZIN<\/jats:italic>\n                      , which encodes a mitochondrial protein essential for cardiolipin remodelling. In this study, we describe the case of a patient with Barth syndrome in whom initial research genetic testing missed a 5' untranslated region deletion in\n                      <jats:italic>TAFAZZIN<\/jats:italic>\n                      that was later identified through a phenotype-guided reanalysis of exome sequencing data.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      A male infant presented with dilated cardiomyopathy at 7 months of age and underwent cardiac transplantation at 19 months. Initial comprehensive cardiac genetic testing was indeterminate. Subsequent clinical investigations recorded a slight increase in the levels of 3-methylglutaconic acid and intermittent neutropenia, and a history of intermittent neutropenia was noted in his mother and maternal grandmother, prompting a consideration of Barth syndrome. A reanalysis of exome sequencing data identified a hemizygous 116 base pair deletion spanning the 5' untranslated region and start codon of\n                      <jats:italic>TAFAZZIN<\/jats:italic>\n                      . An RNA analysis from the proband's cardiac tissue amplified truncated\n                      <jats:italic>TAFAZZIN<\/jats:italic>\n                      transcripts, and Western blotting confirmed the complete loss of full-length protein, consistent with the loss of the start codon and failure of translation initiation from a downstream in-frame methionine.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      We report a novel 116\u2005bp\n                      <jats:italic>TAFAZZIN<\/jats:italic>\n                      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.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fcvm.2026.1766067","type":"journal-article","created":{"date-parts":[[2026,2,16]],"date-time":"2026-02-16T06:37:34Z","timestamp":1771223854000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: Deletion in the 5' untranslated region of TAFAZZIN in a boy with Barth syndrome"],"prefix":"10.3389","volume":"13","author":[{"given":"Emma S.","family":"Singer","sequence":"first","affiliation":[{"name":"Bioinformatics and Molecular Genetics Group at Centenary Institute, The University of Sydney","place":["Sydney, NSW, Australia"]},{"name":"Faculty of Medicine and Health, The University of Sydney","place":["Sydney, NSW, 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