{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T00:07:37Z","timestamp":1789949257431,"version":"4.0.1"},"reference-count":19,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2015,9,28]],"date-time":"2015-09-28T00:00:00Z","timestamp":1443398400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"JSPS KAKENHI","award":["26293304"],"award-info":[{"award-number":["26293304"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,12]]},"abstract":"<jats:sec><jats:label\/><jats:p>Holt\u2013Oram syndrome (HOS) is an autosomal dominant condition characterized by upper limb and congenital heart defects and caused by numerous germline mutations of <jats:italic>TBX5<\/jats:italic> producing preterminal stop codons. Here, we report on a novel and unusual heterozygous <jats:italic>TBX5<\/jats:italic> microdeletion with microinsertion (microindel) mutation (c.627delinsGTGACTCAGGAAACGCTTTCCTGA), which is predicted to synthesize a truncated <jats:italic>TBX5<\/jats:italic> protein, detected in a sporadic patient with clinical features of HOS prenatally diagnosed by ultrasonography. This uncommon and relatively large inserted sequence contains sequences derived from nearby but not adjacent templates on both sense and antisense strands, suggesting two possible models, which require no repeat sequences, causing this complex microindel through the bypass of large DNA adducts via an error\u2010prone DNA polymerase\u2010mediated translesion synthesis. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37359","type":"journal-article","created":{"date-parts":[[2015,9,4]],"date-time":"2015-09-04T06:43:37Z","timestamp":1441349017000},"page":"3192-3196","source":"Crossref","is-referenced-by-count":2,"title":["A unique <i>TBX5<\/i> microdeletion with microinsertion detected in patient with Holt\u2013Oram syndrome"],"prefix":"10.1002","volume":"167","author":[{"given":"Mikio","family":"Morine","sequence":"first","affiliation":[{"name":"General Perinatal Medical Center Shikoku Medical Center for Children and Adults Zentsuji 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