{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T16:20:04Z","timestamp":1761582004212,"version":"3.41.2"},"reference-count":21,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2020,9,2]],"date-time":"2020-09-02T00:00:00Z","timestamp":1599004800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Ectrodactyly\u2010ectodermal dysplasia\u2010clefting syndrome 3 (EEC) is one of the six overlapping syndromes caused by mutations in the tumor protein p63 gene (<jats:italic>TP63<\/jats:italic>). EEC is suspected when patients have cleft hands or feet, polydactyly, and syndactyly, abnormal development of the ectodermally derived structures, and orofacial clefting. Genitourinary (GU) anomalies have been identified in patients with EEC, yet these are often under\u2010recognized and under\u2010reported. The available literature on sonographic prenatal findings is sparse, especially when considering GU anomalies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We present the case of a male stillborn fetus, who was found antenatally to have multicystic dysplastic kidneys and anhydramnios. Following the termination of pregnancy, examination and autopsy further revealed unilateral polydactyly and bilateral syndactyly which had not been previously identified on antenatal ultrasound.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Whole\u2010exome sequencing (WES) revealed a de novo heterozygous pathogenic variant in exon 5 of the <jats:italic>TP63<\/jats:italic> gene: p.His247Arg: c.740A&gt;G (NM_003722.4) which has been reported in the literature. The His247Arg variant has been published as a pathogenic variant in association with EEC, both with and without orofacial clefting.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our prenatal case expands the phenotypic spectrum of <jats:italic>TP63<\/jats:italic>\u2010related disorders in general. In addition, it adds to the phenotype associated with the His247Arg pathogenic variant responsible for EEC. Further, we highlight the importance of WES as a postnatal tool to help clarify unexpected findings, and as a way to add to the spectrum of existing phenotypes of known single\u2010gene disorders.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1486","type":"journal-article","created":{"date-parts":[[2020,9,3]],"date-time":"2020-09-03T03:40:16Z","timestamp":1599104416000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["<i>TP63<\/i>\u2010mutation as a cause of prenatal lethal multicystic dysplastic kidneys"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4018-314X","authenticated-orcid":false,"given":"Isabel","family":"Friedmann","sequence":"first","affiliation":[{"name":"Schulich School of Medicine and Dentistry University of Western Ontario  London ON Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carla","family":"Campagnolo","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism Department of Paediatrics London Health Sciences Centre  London ON Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nancy","family":"Chan","sequence":"additional","affiliation":[{"name":"Schulich School of Medicine and Dentistry University of Western Ontario  London ON Canada"},{"name":"Department of Pathology London Health Sciences Centre  London ON Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ghislain","family":"Hardy","sequence":"additional","affiliation":[{"name":"Schulich School of Medicine and Dentistry University of Western Ontario  London ON Canada"},{"name":"Department of Obstetrics and Gynecology London Health Sciences Centre  London ON Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maha","family":"Saleh","sequence":"additional","affiliation":[{"name":"Schulich School of Medicine and Dentistry University of Western Ontario  London ON Canada"},{"name":"Division of Genetics and Metabolism Department of Paediatrics London Health Sciences Centre  London ON Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,9,2]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.7863\/jum.2008.27.1.149"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1991.tb03093.x"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970130614"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.9.716"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1101"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2009.09496.x"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37816"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/mcd.0000000000000172"},{"issue":"4","key":"e_1_2_8_10_1","first-page":"433","article-title":"Prune belly anomaly on prenatal ultrasound as a presenting feature of ectrodactyly\u2010ectodermal dysplasia\u2010clefting syndrome (EEC)","volume":"19","author":"Janssens S.","year":"2008","journal-title":"Genetic Counseling"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.7863\/jum.1989.8.6.337"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469-0705.1995.06060443.x"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/(sici)1096-8628(19960614)63:3<472:Aid-ajmg11>3.0.Co;2-j"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31664"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440617"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0138314"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.4161\/cc.6.3.3796"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31271"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.4103\/2156-7514.99153"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290116"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2230.2009.03451.x"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejogrb.2017.04.012"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1486","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1486","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1486","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,21]],"date-time":"2024-02-21T11:56:26Z","timestamp":1708516586000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1486"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9,2]]},"references-count":21,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2020,11]]}},"alternative-id":["10.1002\/mgg3.1486"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1486","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"type":"print","value":"2324-9269"},{"type":"electronic","value":"2324-9269"}],"subject":[],"published":{"date-parts":[[2020,9,2]]},"assertion":[{"value":"2020-04-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-08-10","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-09-02","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1486"}}