{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T08:00:50Z","timestamp":1790236850831,"version":"4.1.0"},"reference-count":50,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T00:00:00Z","timestamp":1790208000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T00:00:00Z","timestamp":1790208000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Transcription Co\u2010Activator Factor 20 (TCF20) Associated Neurodevelopmental Disorder (TAND, OMIM: 618430) is a rare autosomal dominant neurodevelopmental disorder most commonly associated with disruptive TCF20 variants and features overlapping Smith\u2010Magenis syndrome (SMS, OMIM: 182290). Here we present a 40\u2010year\u2010old man with Hirschsprung disease (HD), intellectual disability, coarse facial features, sleep disturbances, and recurrent infections in whom whole\u2010exome sequencing revealed a de novo heterozygous SVA retrotransposon insertion at c.1920_1921 in Exon 2 of TCF20 (OMIM: 603107), predicted to disrupt the primary TCF20 transcript (NM_005650.4), consistent with a molecular diagnosis of TAND. This SVA insertion has not been previously reported. The occurrence of congenital, biopsy\u2010confirmed Hirschsprung disease in this patient suggests that intestinal aganglionosis may represent an uncommon extension of the gastrointestinal phenotype associated with TAND, in which chronic constipation and gastrointestinal dysmotility are already recognized. This case also underscores the phenotypic and molecular heterogeneity associated with mobile transposable elements of the human exome, alongside the clinical importance of transposon analysis.<\/jats:p>","DOI":"10.1002\/ajmg.a.70306","type":"journal-article","created":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T07:36:43Z","timestamp":1790235403000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Syndromic Hirschsprung Disease With a Novel De Novo Sense Exonic\n                    <scp>SVA<\/scp>\n                    Insertion of\n                    <scp>\n                      <i>TCF20<\/i>\n                    <\/scp>"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2833-3769","authenticated-orcid":false,"given":"Briana","family":"O'Leary","sequence":"first","affiliation":[{"name":"Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology Brigham and Women's Hospital  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aditya","family":"Ramanujan","sequence":"additional","affiliation":[{"name":"Department of Surgery Beth Israel Deaconess Medical Center  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6714-2949","authenticated-orcid":false,"given":"Aria","family":"Belle","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Metabolism, Department of Pediatrics Massachusetts General Hospital  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0867-722X","authenticated-orcid":false,"given":"Nina B.","family":"Gold","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Metabolism, Department of Pediatrics Massachusetts General Hospital  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1621-3284","authenticated-orcid":false,"given":"David A.","family":"Sweetser","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Metabolism, Department of Pediatrics Massachusetts General Hospital  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6728-6195","authenticated-orcid":false,"given":"Daniel J.","family":"Pomerantz","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Metabolism, Department of Pediatrics Massachusetts General Hospital  Boston Massachusetts 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