{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T14:35:21Z","timestamp":1787495721431,"version":"build-2736575974"},"reference-count":30,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,9,3]],"date-time":"2020-09-03T00:00:00Z","timestamp":1599091200000},"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":["Clinical Genetics"],"published-print":{"date-parts":[[2020,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Next\u2010generation sequencing strategies have resulted in mutation detection rates of 21% to 61% in small cohorts of patients with microphthalmia, anophthalmia and coloboma (MAC), but despite progress in identifying novel causative genes, many patients remain without a genetic diagnosis. We studied a cohort of 19 patients with MAC who were ascertained from a population with high rates of consanguinity. Using single nucleotide polymorphism (SNP) arrays and whole exome sequencing (WES), we identified one pathogenic variant in\n                    <jats:italic>TENM3<\/jats:italic>\n                    in a patient with cataracts in addition to MAC. We also detected novel variants of unknown significance in genes that have previously been associated with MAC, including\n                    <jats:italic>KIF26B<\/jats:italic>\n                    ,\n                    <jats:italic>MICU1<\/jats:italic>\n                    and\n                    <jats:italic>CDON<\/jats:italic>\n                    , and identified variants in candidate genes for MAC from the Wnt signaling pathway, comprising\n                    <jats:italic>LRP6<\/jats:italic>\n                    ,\n                    <jats:italic>WNT2B<\/jats:italic>\n                    and\n                    <jats:italic>IQGAP1<\/jats:italic>\n                    , but our findings do not prove causality. Plausible variants were not found for many of the cases, indicating that our current understanding of the pathogenesis of MAC, a highly heterogeneous group of ocular defects, remains incomplete.\n                  <\/jats:p>","DOI":"10.1111\/cge.13830","type":"journal-article","created":{"date-parts":[[2020,8,16]],"date-time":"2020-08-16T01:39:05Z","timestamp":1597541945000},"page":"499-506","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (\n                    <scp>MAC<\/scp>\n                    ) from a consanguineous population"],"prefix":"10.1111","volume":"98","author":[{"given":"Farrah","family":"Islam","sequence":"first","affiliation":[{"name":"Department of Ophthalmology Al\u2010Shifa Eye Trust Hospital  Rawalpindi Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Htun","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Pediatrics University of California San Francisco  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li\u2010Wen","family":"Lai","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Arizona  Tucson Arizona USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Max","family":"Krall","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Pediatrics University of California San Francisco  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Menitha","family":"Poranki","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Pediatrics University of California San Francisco  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre\u2010Marie","family":"Martin","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of California San Francisco  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nara","family":"Sobreira","sequence":"additional","affiliation":[{"name":"McKusick\u2010Nathans Department of Genetic Medicine Johns Hopkins University School of Medicine  Baltimore Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth S.","family":"Wohler","sequence":"additional","affiliation":[{"name":"McKusick\u2010Nathans Department of Genetic Medicine Johns Hopkins University School of Medicine  Baltimore Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6299-9708","authenticated-orcid":false,"given":"Jingwei","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine University of California San Francisco  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony T.","family":"Moore","sequence":"additional","affiliation":[{"name":"Dept. Ophthalmology University of California San Francisco  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7053-2449","authenticated-orcid":false,"given":"Anne M.","family":"Slavotinek","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Pediatrics University of California San Francisco  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,9,3]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13239"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0070-2153(10)90010-0"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-018-1949-1"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.exer.2016.03.014"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22769"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.71"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2014.05.002"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37667"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.05.004"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.06.016"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0142843"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000059"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61355"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2015-2995"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1742-4658.2009.07310.x"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms5272"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1615105114"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13824"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.01856"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.20621"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.163212"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.21770"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.22054"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.99866"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/mtm.2016.56"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.06.001"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.03.020"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-018-0504-1"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12379"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.13830","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13830","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.13830","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13830","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T05:44:29Z","timestamp":1693547069000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13830"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9,3]]},"references-count":30,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2020,11]]}},"alternative-id":["10.1111\/cge.13830"],"URL":"https:\/\/doi.org\/10.1111\/cge.13830","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,9,3]]},"assertion":[{"value":"2020-05-14","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":"2020-09-03","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}