{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T11:29:41Z","timestamp":1776338981680,"version":"3.51.2"},"reference-count":11,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2022,6,16]],"date-time":"2022-06-16T00:00:00Z","timestamp":1655337600000},"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":[[2022,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome (ACOGS; OMIM #618929) is a rare genetic disorder characterized by global developmental delay, agenesis or hypoplasia of corpus callosum, craniofacial dysmorphism, ocular, cardiac, and genital anomalies. ACOGS is caused by variations in the <jats:italic>CDH2<\/jats:italic> gene. Our patient had a novel finding besides the classical findings of ACOGS. To the best of our knowledge, only 14 patients with ACOGS have been reported. Here, we reported the fifteenth patient with ACOGS, having a novel de novo nonsense variant in the <jats:italic>CDH2<\/jats:italic> gene, and the first patient from Turkey with a novel finding. Our patient was the first female to have a renal anomaly since only genital malformations were reported in male patients (cryptorchidism, micropenis) so far.<\/jats:p>","DOI":"10.1002\/ajmg.a.62861","type":"journal-article","created":{"date-parts":[[2022,6,16]],"date-time":"2022-06-16T09:05:48Z","timestamp":1655370348000},"page":"2815-2818","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A Novel nonsense variant in the <i>CDH2<\/i> gene associated with <scp>ACOGS<\/scp>: A case report"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1385-653X","authenticated-orcid":false,"given":"Momen","family":"Kanjee","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Ataturk University  Erzurum Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1957-9596","authenticated-orcid":false,"given":"Cigdem","family":"Yuce Kahraman","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Ataturk University  Erzurum Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pelin","family":"Ercoskun","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Istanbul University\u2010Cerrahpasa  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7273-1679","authenticated-orcid":false,"given":"Abdulgani","family":"Tatar","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Ataturk University  Erzurum Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mustafa","family":"Kahraman","sequence":"additional","affiliation":[{"name":"Department of Radiology Erzurum City Hospital  Erzurum Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,6,16]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.09.005"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598\u2010018\u201038455\u2010w"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tcb.2012.03.004"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.128.4.459"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.3760\/cma.j.cn112140\u201020210518\u201000435"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20763"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1996.8443"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13660"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a003053"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.4161\/cib.4.3.14886"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2020.11.002"}],"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.62861","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62861","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62861","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T05:15:40Z","timestamp":1692681340000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62861"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6,16]]},"references-count":11,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2022,9]]}},"alternative-id":["10.1002\/ajmg.a.62861"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62861","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,6,16]]},"assertion":[{"value":"2022-01-14","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-04-21","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-06-16","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}