{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T00:34:58Z","timestamp":1790728498211,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2020,12,16]],"date-time":"2020-12-16T00:00:00Z","timestamp":1608076800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000097","name":"National Center for Research Resources","doi-asserted-by":"publisher","award":["1UL1RR031973"],"award-info":[{"award-number":["1UL1RR031973"]}],"id":[{"id":"10.13039\/100000097","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","award":["R01EY025718"],"award-info":[{"award-number":["R01EY025718"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["U24 HG008956"],"award-info":[{"award-number":["U24 HG008956"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["UM1 HG006493"],"award-info":[{"award-number":["UM1 HG006493"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000071","name":"National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["R21HD099701"],"award-info":[{"award-number":["R21HD099701"]}],"id":[{"id":"10.13039\/100000071","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Complex microphthalmia is characterized by small eyes with additional abnormalities that may include anterior segment dysgenesis. While many genes are known, a genetic cause is identified in only 4\u201330% of microphthalmia, with the lowest rate in unilateral cases. We identified four novel pathogenic loss\u2010of\u2010function alleles in\n                    <jats:italic>PRR12<\/jats:italic>\n                    in families affected by complex microphthalmia and\/or Peters anomaly, including two de novo, the first dominantly transmitted allele, as well as the first splicing variant. The ocular phenotypes were isolated with no additional systemic features observed in two unrelated families. Remarkably, ocular phenotypes were asymmetric in all individuals and unilateral (with structurally normal contralateral eye) in three. There are only three previously reported\n                    <jats:italic>PRR12<\/jats:italic>\n                    variants identified in probands with intellectual disability, neuropsychiatric disorders, and iris anomalies. While some overlap with previously reported cases is seen, nonsyndromic developmental ocular anomalies are a novel phenotype for this gene. Additional phenotypic expansions included short stature and normal development\/cognition, each noted in two individuals in this cohort, as well as absence of neuropsychiatric disorders in all. This study identifies new associations for\n                    <jats:italic>PRR12<\/jats:italic>\n                    disruption in humans and presents a genetic diagnosis resulting in unilateral ocular phenotypes in a significant proportion of cases.\n                  <\/jats:p>","DOI":"10.1111\/cge.13897","type":"journal-article","created":{"date-parts":[[2020,12,13]],"date-time":"2020-12-13T06:59:18Z","timestamp":1607842758000},"page":"437-442","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Dominant variants in\n                    <scp>\n                      <i>PRR12<\/i>\n                    <\/scp>\n                    result in unilateral or bilateral complex microphthalmia"],"prefix":"10.1111","volume":"99","author":[{"given":"Linda M.","family":"Reis","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Children's Research Institute Medical College of Wisconsin and Children's Wisconsin  Milwaukee Wisconsin USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah","family":"Costakos","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences Medical College of Wisconsin  Milwaukee Wisconsin USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia G.","family":"Wheeler","sequence":"additional","affiliation":[{"name":"Division of Genetics Arnold Palmer Hospital  Orlando Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanya","family":"Bardakjian","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Einstein Medical Center  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adele","family":"Schneider","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Einstein Medical Center  Philadelphia Pennsylvania USA"},{"name":"Department of Pediatric Ophthalmology and Ocular Genetics Current position: Wills Eye Hospital  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon S. M.","family":"Fung","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology University of California Los Angeles  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"University of Washington Center for Mendelian Genomics","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0531-3586","authenticated-orcid":false,"given":"Elena V.","family":"Semina","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Children's Research Institute Medical College of Wisconsin and Children's Wisconsin  Milwaukee Wisconsin USA"},{"name":"Department of Ophthalmology and Visual Sciences Medical College of Wisconsin  Milwaukee Wisconsin USA"},{"name":"Department of Cell Biology Neurobiology and Anatomy, Medical College of Wisconsin  Milwaukee Wisconsin USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,12,16]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdrc.21097"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/ICU.0b013e328349412b"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2018.12.050"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31837"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-020-0854-x"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes11040350"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12275"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-018-1877-0"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-015-0452-2"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.06.015"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2005.07.015"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13353-018-0444-7"},{"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":"10.1111\/j.1399-0004.2010.01450.x"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33098"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-016-1747-6"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13897","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.13897","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13897","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T16:59:57Z","timestamp":1693587597000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13897"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12,16]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2021,3]]}},"alternative-id":["10.1111\/cge.13897"],"URL":"https:\/\/doi.org\/10.1111\/cge.13897","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.13897\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13897\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13897\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13897\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13897\/v1\/review2","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,12,16]]},"assertion":[{"value":"2020-10-23","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-12-10","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-12-16","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}