{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T12:20:30Z","timestamp":1756383630691,"version":"3.41.2"},"reference-count":13,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2023,4,25]],"date-time":"2023-04-25T00:00:00Z","timestamp":1682380800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2023,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Barth syndrome (BTHS) is an X\u2010linked disorder characterized by cardiomyopathy, skeletal myopathy, and 3\u2010methylglutaconic aciduria. The causative pathogenic variants for BTHS are in <jats:italic>TAZ<\/jats:italic>, which encodes a putative acyltransferase named tafazzin and is involved in the remodeling of cardiolipin in the inner mitochondrial membranes. Pathogenic variants in <jats:italic>TAZ<\/jats:italic> result in mitochondrial structural and functional abnormalities. We report a case of infantile BTHS with severe heart failure, left ventricular noncompaction, and lactic acidosis, having a missense c.640C&gt;T (p.His214Tyr) variant in <jats:italic>TAZ<\/jats:italic>, which is considered a pathogenic variant based on the previously reported amino acid substitution at the same site (c.641A&gt;G, p.His214Arg). However, in this previously reported case, heart function was compensated and not entirely similar to the present case. Silico prediction analysis suggested that c.640C&gt;T could alter the <jats:italic>TAZ<\/jats:italic> messenger RNA (mRNA) splicing process. <jats:italic>TAZ<\/jats:italic> mRNAs in isolated peripheral mononuclear cells from the patient and in vitro splicing analysis using minigenes of <jats:italic>TAZ<\/jats:italic> found an 8\u2009bp deletion at the 3\u2032 end of exon 8, which resulted in the formation of a termination codon in the coding region of exon 9 (H214Nfs*3). These findings suggest that splicing abnormalities should always be considered in BTHS.<\/jats:p>","DOI":"10.1002\/mgg3.2190","type":"journal-article","created":{"date-parts":[[2023,4,26]],"date-time":"2023-04-26T06:54:55Z","timestamp":1682492095000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A case of infantile Barth syndrome with severe heart failure: Importance of splicing variants in the <i>TAZ<\/i> gene"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9913-5834","authenticated-orcid":false,"given":"Atsuhito","family":"Takeda","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine Hokkaido University  Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masahiro","family":"Ueki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine Hokkaido University  Sapporo 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