{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T06:59:44Z","timestamp":1792047584256,"version":"4.4.0"},"reference-count":11,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,9,21]],"date-time":"2024-09-21T00:00:00Z","timestamp":1726876800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Haploinsufficiency of <jats:italic>SF3B2<\/jats:italic> is associated with craniofacial microsomia, characterized by mandibular hypoplasia and microtia, often with preauricular tags or pits, epibulbar dermoids, and cleft palate. In addition, extracraniofacial anomalies may be present, such as skeletal, cardiac renal, and abnormalities of the central nervous system. Variants have been either <jats:italic>de novo<\/jats:italic> or inherited, and both inter\u2010 and intrafamilial variability has been observed. Here we describe a patient referred for exome sequencing for a complex congenital heart defect and Hirschsprung disease found by exome sequencing to be heterozygous for a loss of function variant, c.945dup (p.Val316SerfsTer5), in <jats:italic>SF3B<\/jats:italic>2. This variant was inherited from a parent with an isolated cardiac defect. Interestingly, neither have the defining craniofacial features or other dysmorphisms. This report further illustrates the degree of phenotypic variability seen in <jats:italic>SF3B2\u2010<\/jats:italic>related disease and expands the spectrum to include Hirschsprung disease.<\/jats:p>","DOI":"10.1002\/ajmg.a.63886","type":"journal-article","created":{"date-parts":[[2024,9,21]],"date-time":"2024-09-21T08:34:04Z","timestamp":1726907644000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["<scp><i>SF3B2<\/i><\/scp> Haploinsufficiency Associated With Hirschprung Disease and Complex Cardiac Defect Without Craniofacial Microsomia"],"prefix":"10.1002","volume":"197","author":[{"given":"Florencia","family":"Del Viso","sequence":"first","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Children's Mercy Hospital  Kansas City Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dihong","family":"Zhou","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics Children's Mercy Hospital  Kansas City Missouri USA"},{"name":"University of Missouri Kansas City, School of Medicine  Kansas City Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Starling","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics Children's Mercy Hospital  Kansas City Missouri USA"},{"name":"University of Missouri Kansas City, School of Medicine  Kansas City Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily","family":"Fleming","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics Children's Mercy Hospital  Kansas City Missouri USA"},{"name":"University of Missouri Kansas City, School of Medicine  Kansas City Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7407-7735","authenticated-orcid":false,"given":"Carol","family":"Saunders","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Children's Mercy Hospital  Kansas City Missouri USA"},{"name":"University of Missouri Kansas City, School of Medicine  Kansas City Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,9,21]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.04.004"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62113"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.214"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00383\u2010023\u201005587\u20108"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102021\u2010108105"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3004041"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3010076"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467\u2010021\u201024852\u20109"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2020.00014"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.2268"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63886","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,3]],"date-time":"2025-01-03T05:46:38Z","timestamp":1735883198000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63886"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9,21]]},"references-count":11,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2025,2]]}},"alternative-id":["10.1002\/ajmg.a.63886"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63886","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,9,21]]},"assertion":[{"value":"2024-07-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-09-11","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-09-21","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63886"}}