{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T09:01:56Z","timestamp":1790845316606,"version":"4.1.0"},"reference-count":14,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,7,14]],"date-time":"2020-07-14T00:00:00Z","timestamp":1594684800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100007472","name":"University of Kentucky","doi-asserted-by":"publisher","award":["5045\/46"],"award-info":[{"award-number":["5045\/46"]}],"id":[{"id":"10.13039\/100007472","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2020,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Structural eye disorders are increasingly recognised as having a genetic basis, although current genetic testing is limited in its success.\n                    <jats:italic>De novo<\/jats:italic>\n                    missense variants in\n                    <jats:italic>WDR37<\/jats:italic>\n                    are a recently described cause of a multisystemic syndromic disorder featuring ocular coloboma. This study characterises the phenotypic spectrum of this disorder and reports 2 de novo heterozygous variants (p.Thr115Ile, p.Ser119Tyr) in three unrelated Caucasian individuals. All had a clinical phenotype consisting of bilateral iris and retinal coloboma, developmental delay and additional, variable multisystem features. The variants fall within a highly conserved region upstream of the WD\u2010repeat domains, within an apparent mutation cluster. Consistent with the literature, intellectual disability, structural eye disorders, epilepsy, congenital heart disease, genitorenal anomalies and dysmorphic facial features were observed. In addition, a broader developmental profile is reported with a more specific musculoskeletal phenotype described in association with the novel variant (p.Thr115Ile). We further expand the phenotypic spectrum of\n                    <jats:italic>WDR37<\/jats:italic>\n                    \u2010related disorders to include those with milder developmental delay and strengthen the association of ocular coloboma and musculoskeletal features. We promote the inclusion of\n                    <jats:italic>WDR37<\/jats:italic>\n                    on gene panels for intellectual disability, epilepsy and structural eye disorders.\n                  <\/jats:p>","DOI":"10.1111\/cge.13795","type":"journal-article","created":{"date-parts":[[2020,6,12]],"date-time":"2020-06-12T08:17:27Z","timestamp":1591949847000},"page":"191-197","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Expanding the phenotypic spectrum consequent upon de novo\n                    <scp>\n                      <i>WDR37<\/i>\n                    <\/scp>\n                    missense variants"],"prefix":"10.1111","volume":"98","author":[{"given":"Eleanor","family":"Hay","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Great Ormond Street Hospital  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert H.","family":"Henderson","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Great Ormond Street Hospital  London UK"},{"name":"University College London Institute of Ophthalmology  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sahar","family":"Mansour","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics St George's Hospital  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charu","family":"Deshpande","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Guy's Hospital  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Jones","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Guy's Hospital  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Savita","family":"Nutan","sequence":"additional","affiliation":[{"name":"London North Genomic Laboratory Hub Great Ormond Street Hospital  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kshitij","family":"Mankad","sequence":"additional","affiliation":[{"name":"Department of Neuroradiology Great Ormond Street Hospital  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rodrigo M.","family":"Young","sequence":"additional","affiliation":[{"name":"University College London Institute of Ophthalmology  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariya","family":"Moosajee","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Great Ormond Street Hospital  London UK"},{"name":"University College London Institute of Ophthalmology  London UK"},{"name":"Moorfields Eye Hospital NHS Foundation Trust  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Genomics England","family":"Research Consortium","sequence":"additional","affiliation":[{"name":"Genomics England  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6165-7888","authenticated-orcid":false,"given":"Gavin","family":"Arno","sequence":"additional","affiliation":[{"name":"University College London Institute of Ophthalmology  London UK"},{"name":"Moorfields Eye Hospital NHS Foundation Trust  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,7,14]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.1.16"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archophthalmol.2010.320"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2014.05.002"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaophthalmol.2013.5305"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.155"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.06.015"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.07.017"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaophthalmol.2017.0046"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-17-0337"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37351"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tibs.2010.04.003"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep39262"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature19356"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.13795","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13795","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.13795","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13795","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,5]],"date-time":"2023-09-05T07:24:18Z","timestamp":1693898658000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13795"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,7,14]]},"references-count":14,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2020,8]]}},"alternative-id":["10.1111\/cge.13795"],"URL":"https:\/\/doi.org\/10.1111\/cge.13795","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.13795\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13795\/v3\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13795\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13795\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13795\/v3\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13795\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13795\/v1\/review1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,7,14]]},"assertion":[{"value":"2020-04-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-06-03","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-07-14","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}