{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:46:49Z","timestamp":1787014009184,"version":"build-2736575974"},"reference-count":14,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2025,5,15]],"date-time":"2025-05-15T00:00:00Z","timestamp":1747267200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","award":["1R01 EY032976"],"award-info":[{"award-number":["1R01 EY032976"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","award":["1R01 EY035500"],"award-info":[{"award-number":["1R01 EY035500"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","award":["R01 EY024373"],"award-info":[{"award-number":["R01 EY024373"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    We present a 2\u2010year\u2010old male with bilateral iris and chorioretinal colobomas, speech delays, and facial and digital anomalies. Trio exome sequencing demonstrated a de novo, novel heterozygous variant, c.379G&gt;A p.Glu127Lys in\n                    <jats:italic>CDC42<\/jats:italic>\n                    , conferring a diagnosis of Takenouchi\u2010Kosaki syndrome. The p.Glu127Lys variant was not located in the same region as previously designated mutation classes for\n                    <jats:italic>CDC42<\/jats:italic>\n                    , and the patient's missense substitution was predicted to disrupt CDC42 interactions with Collybistin II and IQGAP1. As conditional knock\u2010out mouse models have demonstrated coloboma in association with loss of\n                    <jats:italic>Cdc42<\/jats:italic>\n                    expression, we conclude that the colobomas can be attributed to the\n                    <jats:italic>CDC42<\/jats:italic>\n                    variant and that similar ocular anomalies are likely to be described with other Rho GTPases in the future.\n                  <\/jats:p>","DOI":"10.1111\/cge.14768","type":"journal-article","created":{"date-parts":[[2025,5,15]],"date-time":"2025-05-15T07:45:34Z","timestamp":1747295134000},"page":"589-593","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Case Report: Association of Ocular Colobomas With a Novel Missense Variant in\n                    <i>CDC42<\/i>\n                    , a Member of the Rho Family of Small\n                    <scp>GTPases<\/scp>"],"prefix":"10.1111","volume":"108","author":[{"given":"Diana","family":"Brightman","sequence":"first","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center (CCHMC)  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nawaal","family":"Shinwari","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center (CCHMC)  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleksey","family":"Porollo","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center (CCHMC)  Cincinnati Ohio USA"},{"name":"Department of Pediatrics University of Cincinnati College of Medicine  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eniolami O.","family":"Dosunmu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Ophthalmology CCHMC  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ehsan","family":"Ullah","sequence":"additional","affiliation":[{"name":"Ophthalmic Genetics &amp; Visual Function Branch National Eye Institute, National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bin","family":"Guan","sequence":"additional","affiliation":[{"name":"Ophthalmic Genetics &amp; Visual Function Branch National Eye Institute, National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert B.","family":"Hufnagel","sequence":"additional","affiliation":[{"name":"Ophthalmic Genetics &amp; Visual Function Branch National Eye Institute, National Institutes of Health  Bethesda Maryland USA"},{"name":"Center for Integrated Healthcare Research, Kaiser Permanente  Honolulu Hawaii USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian P.","family":"Brooks","sequence":"additional","affiliation":[{"name":"Ophthalmic Genetics &amp; Visual Function Branch National Eye Institute, National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Delphine","family":"Blain","sequence":"additional","affiliation":[{"name":"Ophthalmic Genetics &amp; Visual Function Branch National Eye Institute, National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"Fuhrmann","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences Vanderbilt University Medical Center  Nashville Tennessee USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brittany","family":"Simpson","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center (CCHMC)  Cincinnati Ohio USA"},{"name":"Department of Pediatrics University of Cincinnati College of Medicine  Cincinnati Ohio USA"},{"name":"Department of Pediatrics University of Tennessee Health Science Center, Le Bonheur Children's Hospital  Memphis Tennessee USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne M.","family":"Slavotinek","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center (CCHMC)  Cincinnati Ohio USA"},{"name":"Department of Pediatrics University of Cincinnati College of Medicine  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,5,15]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.12.015"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37275"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes15080974"},{"key":"e_1_2_8_5_1","first-page":"1144","article-title":"Developmental Expression of Three Small GTPases in the Mouse Eye","volume":"13","author":"Mitchell D. C.","year":"2007","journal-title":"Molecular Vision"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0053806"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.3389\/fncel.2024.1474010"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41587-023-01773-0"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/28.1.235"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btz926"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1080\/13816810.2022.2096242"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.str.2016.06.016"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmb.2006.03.019"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37762"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.143602"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14768","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T07:47:32Z","timestamp":1759823252000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14768"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5,15]]},"references-count":14,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2025,11]]}},"alternative-id":["10.1111\/cge.14768"],"URL":"https:\/\/doi.org\/10.1111\/cge.14768","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,5,15]]},"assertion":[{"value":"2025-02-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-05-06","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-05-15","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}