{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T02:59:35Z","timestamp":1778641175059,"version":"3.51.4"},"reference-count":11,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2016,7,12]],"date-time":"2016-07-12T00:00:00Z","timestamp":1468281600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","award":["EY015518"],"award-info":[{"award-number":["EY015518"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["1UL1RR031973"],"award-info":[{"award-number":["1UL1RR031973"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2016,10]]},"abstract":"<jats:p>The genetic basis of congenital glaucoma with systemic anomalies is largely unknown. Whole exome sequencing (<jats:styled-content style=\"fixed-case\">WES<\/jats:styled-content>) in 10 probands with congenital glaucoma and variable systemic anomalies identified pathogenic or likely pathogenic variants in three probands; in two of these, a combination of two Mendelian disorders was found to completely explain the patients' features whereas in the third case only the ocular findings could be explained by the genetic diagnosis. The molecular diagnosis for glaucoma included two cases with compound heterozygous or homozygous pathogenic alleles in <jats:italic><jats:styled-content style=\"fixed-case\">CYP1B1<\/jats:styled-content><\/jats:italic> and one family with a dominant pathogenic variant in <jats:italic><jats:styled-content style=\"fixed-case\">FOXC1<\/jats:styled-content><\/jats:italic>; the second genetic diagnosis for the additional systemic features included compound heterozygous mutations in <jats:italic><jats:styled-content style=\"fixed-case\">NPHS1<\/jats:styled-content><\/jats:italic> in one family and a heterozygous 18q23 deletion in another pedigree. These findings show the power of <jats:styled-content style=\"fixed-case\">WES<\/jats:styled-content> in the analysis of complex conditions and emphasize the importance of <jats:italic><jats:styled-content style=\"fixed-case\">CYP1B1<\/jats:styled-content><\/jats:italic> screening in patients with congenital glaucoma regardless of the presence\/absence of other systemic anomalies.<\/jats:p>","DOI":"10.1111\/cge.12816","type":"journal-article","created":{"date-parts":[[2016,6,6]],"date-time":"2016-06-06T13:41:08Z","timestamp":1465220468000},"page":"378-382","source":"Crossref","is-referenced-by-count":15,"title":["Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies"],"prefix":"10.1111","volume":"90","author":[{"given":"L. M.","family":"Reis","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Children's Research Institute Medical College of Wisconsin and Children's Hospital of Wisconsin  Milwaukee WI USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. C.","family":"Tyler","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Children's Research Institute Medical College of Wisconsin and Children's Hospital of Wisconsin  Milwaukee WI USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Weh","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Children's Research Institute Medical College of Wisconsin and Children's Hospital of Wisconsin  Milwaukee WI USA"},{"name":"Department of Cell Biology, Neurobiology and Anatomy Medical College of Wisconsin  Milwaukee WI USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K. E.","family":"Hendee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Children's Research Institute Medical College of Wisconsin and Children's Hospital of Wisconsin  Milwaukee WI USA"},{"name":"Department of Cell Biology, Neurobiology and Anatomy Medical College of Wisconsin  Milwaukee WI USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K. F.","family":"Schilter","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Children's Research Institute Medical College of Wisconsin and Children's Hospital of Wisconsin  Milwaukee WI USA"},{"name":"Department of Cell Biology, Neurobiology and Anatomy Medical College of Wisconsin  Milwaukee WI USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"III","given":"J. A.","family":"Phillips","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Genomic Medicine Vanderbilt University Medical Center  Nashville TN USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Sequeira","sequence":"additional","affiliation":[{"name":"Metabolic Unit, Pediatric Department Hospital de Dona Estef\u00e2nia, CHLC  Lisbon Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Schinzel","sequence":"additional","affiliation":[{"name":"Department of Genetics Institute of Medical Genetics  Schwerzenbach Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E. V.","family":"Semina","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Children's Research Institute Medical College of Wisconsin and Children's Hospital of Wisconsin  Milwaukee WI USA"},{"name":"Department of Cell Biology, Neurobiology and Anatomy Medical College of Wisconsin  Milwaukee WI USA"},{"name":"Department of Ophthalmology Medical College of Wisconsin  Milwaukee WI USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,7,12]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.exer.2011.08.007"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.pharmtox.48.061807.154729"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.155"},{"key":"e_1_2_3_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-013-1358-4"},{"key":"e_1_2_3_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_3_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12202"},{"key":"e_1_2_3_8_1","doi-asserted-by":"publisher","DOI":"10.1159\/000337379"},{"key":"e_1_2_3_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.80"},{"key":"e_1_2_3_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31850"},{"key":"e_1_2_3_11_1","first-page":"224","volume-title":"Genetic Diseases of the Eye","author":"Siddiqui SN","year":"2012"},{"key":"e_1_2_3_12_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2014.14601"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12816","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12816","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T21:32:49Z","timestamp":1696368769000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12816"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,7,12]]},"references-count":11,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2016,10]]}},"alternative-id":["10.1111\/cge.12816"],"URL":"https:\/\/doi.org\/10.1111\/cge.12816","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,7,12]]}}}