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TA is a severe congenital heart disease (CHD) in which the main arterial outflow tract of the heart fails to separate. We recently reported <jats:italic>TMEM260<\/jats:italic> (NM_017799.4), c.1617del (p.Trp539Cysfs*9), as a major cause of TA in the Japanese population (<jats:italic>TMEM260<\/jats:italic> Keio\u2010Tohoku variant) comparable to the prevalence of the 22q11.2 deletion syndrome, which accounts for 12%\u201335% of TA. However, no other major causes of TA have not been identified. Here, we report a family that included a TA patient and a DORV patient, harboring the compound heterozygous variants of <jats:italic>TMEM260<\/jats:italic>, a 7066\u2010bp deletion encompassing exons 6\u20137 and c.1393C\u2009&gt;\u2009T, p.(Gln465*). The allele frequency of the 7066\u2010bp deletion was particularly high in the Japanese population (0.17%). Based on the allele frequency of this deletion and c.1617del (0.36%) in the Japanese population, <jats:italic>TMEM260<\/jats:italic> variants might be associated with more than half of the Japanese patients with TA. This study showed that <jats:italic>TMEM260<\/jats:italic> pathogenic variants might be the most common cause of TA in the Japanese population and could explain the wide spectrum of phenotypes associated with <jats:italic>TMEM260<\/jats:italic>\u2010related CHD, including DORV, demonstrating the usefulness of genetic testing in Japanese patients with TA.<\/jats:p>","DOI":"10.1002\/ajmg.a.63906","type":"journal-article","created":{"date-parts":[[2024,10,19]],"date-time":"2024-10-19T07:24:39Z","timestamp":1729322679000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A Prevalent <scp><i>TMEM260<\/i><\/scp> Deletion Causes Conotruncal Heart Defects, Including Truncus Arteriosus"],"prefix":"10.1002","volume":"197","author":[{"given":"Naoya","family":"Saijo","sequence":"first","affiliation":[{"name":"Department of Pediatrics Tohoku University Graduate School of Medicine  Sendai 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Tohoku University Graduate School of Medicine  Sendai Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eiichiro","family":"Kawai","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology Miyagi Children's Hospital  Sendai Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masato","family":"Kimura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics MHO Sendai Medical Center  Sendai Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akira","family":"Ozawa","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology Miyagi Children's Hospital  Sendai Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gen","family":"Tamiya","sequence":"additional","affiliation":[{"name":"Department of AI and Innovative Medicine Tohoku University Graduate School of Medicine  Sendai Japan"},{"name":"Tohoku Medical Megabank Organization, Tohoku University  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