{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,8,5]],"date-time":"2024-08-05T15:21:16Z","timestamp":1722871276569},"reference-count":19,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2013,10,2]],"date-time":"2013-10-02T00:00:00Z","timestamp":1380672000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:label \/><jats:p>Oculodentodigital dysplasia is caused by mutations in the <jats:italic>GJA1<\/jats:italic> gene. Oculodentodigital dysplasia presents with a spectrum of clinical features including craniofacial, ocular, dental, and limb anomalies. Although recent findings implicate the major role of <jats:italic>GJA1<\/jats:italic> during cardiac organogenesis, congenital heart defects are infrequently reported in oculodentodigital dysplasia. Here we report on two patients with <jats:italic>GJA1<\/jats:italic> mutations presenting with cardiac malformations and type III syndactyly. Patient 1 presented with pulmonary atresia, an intact septum, right ventricular hypoplasia and tricuspid stenosis. The infant had a small nose, thin columella and bilateral 4\u20135 syndactyly of the fingers. A <jats:italic>de novo<\/jats:italic> c.226C&gt;T (p.Arg76Cys) mutation was identified. Patient 2 presented at 6 months with a ventricular septal defect. The child had hypoplastic alae nasi with a thin columella and bilateral 4\u20135 syndactyly of the digits. A <jats:italic>de novo<\/jats:italic> missense mutation, c.145C&gt;G (p.Gln49Glu) was found. Our two patients underscore the importance of cardiac evaluations as part of the initial workup for patients with findings of oculodentodigital dysplasia. Conversely, those patients with type III syndactyly and congenital heart defect should be screened for <jats:italic>GJA1<\/jats:italic> mutations. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36159","type":"journal-article","created":{"date-parts":[[2013,10,12]],"date-time":"2013-10-12T01:31:27Z","timestamp":1381541487000},"page":"3150-3154","source":"Crossref","is-referenced-by-count":17,"title":["Congenital heart defects in oculodentodigital dysplasia: Report of two cases"],"prefix":"10.1002","volume":"161","author":[{"given":"Kosuke","family":"Izumi","sequence":"first","affiliation":[{"name":"Division of Human Genetics The Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew M.","family":"Lippa","sequence":"additional","affiliation":[{"name":"Division of Human Genetics The Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alisha","family":"Wilkens","sequence":"additional","affiliation":[{"name":"Division of Human Genetics The Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Holly A.","family":"Feret","sequence":"additional","affiliation":[{"name":"Division of Human Genetics The Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Donna M.","family":"McDonald\u2010McGinn","sequence":"additional","affiliation":[{"name":"Division of Human Genetics The Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elaine H.","family":"Zackai","sequence":"additional","affiliation":[{"name":"Division of Human Genetics The Children's Hospital of Philadelphia Philadelphia 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