{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T07:06:13Z","timestamp":1775804773448,"version":"3.50.1"},"reference-count":45,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,12,8]],"date-time":"2024-12-08T00:00:00Z","timestamp":1733616000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2024,12,8]],"date-time":"2024-12-08T00:00:00Z","timestamp":1733616000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100000310","name":"Retina UK","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000310","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100017645","name":"Moorfields Eye Charity","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100017645","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Microphthalmia, anophthalmia and coloboma (MAC) comprise a highly heterogeneous spectrum of congenital ocular malformations with an estimated incidence of 1 in 5000 to 1 in 30\u2009000 live births. Although there is likely to be a genetic component in the majority of cases, many remain without a molecular diagnosis. Netrin\u20101 was previously identified as a mediator of optic fissure closure from transcriptome analyses of chick and zebrafish and was shown to cause ocular coloboma when knocked out in both mouse and zebrafish. Here, we report the first patient with chorioretinal coloboma and microphthalmia harbouring a novel heterozygous likely pathogenic\n                    <jats:italic>NTN1<\/jats:italic>\n                    missense variant, c.1483T&gt;A p.(Tyr495Asn), validating a conserved gene function in ocular development. In addition, the patient displayed bilateral sensorineural hearing loss which was investigated by examining the sensory hair cells of\n                    <jats:italic>ntn1a<\/jats:italic>\n                    morphant zebrafish, suggesting a role for netrin\u20101 in hair cell development.\n                  <\/jats:p>","DOI":"10.1111\/cge.14651","type":"journal-article","created":{"date-parts":[[2024,12,9]],"date-time":"2024-12-09T01:58:52Z","timestamp":1733709532000},"page":"292-299","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Novel De Novo Missense Variant in Netrin\u20101 (\n                    <i>NTN1<\/i>\n                    ) Associated With Chorioretinal Coloboma, Sensorineural Hearing Loss and Polydactyly"],"prefix":"10.1111","volume":"107","author":[{"given":"Maria","family":"Toms","sequence":"first","affiliation":[{"name":"Development, Ageing and Disease UCL Institute of Ophthalmology  London 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