{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,28]],"date-time":"2026-03-28T20:15:57Z","timestamp":1774728957840,"version":"3.50.1"},"reference-count":14,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,8,2]],"date-time":"2017-08-02T00:00:00Z","timestamp":1501632000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002261","name":"Russian Foundation for Basic Research","doi-asserted-by":"publisher","award":["15\u201004\u201001859"],"award-info":[{"award-number":["15\u201004\u201001859"]}],"id":[{"id":"10.13039\/501100002261","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002261","name":"Russian Foundation for Basic Research","doi-asserted-by":"publisher","award":["17\u201004\u201000475"],"award-info":[{"award-number":["17\u201004\u201000475"]}],"id":[{"id":"10.13039\/501100002261","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002261","name":"Russian Foundation for Basic Research","doi-asserted-by":"publisher","award":["17\u201004\u201000288"],"award-info":[{"award-number":["17\u201004\u201000288"]}],"id":[{"id":"10.13039\/501100002261","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000935","name":"Russell Sage Foundation","doi-asserted-by":"publisher","award":["17\u201015\u201001051"],"award-info":[{"award-number":["17\u201015\u201001051"]}],"id":[{"id":"10.13039\/100000935","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,12]]},"abstract":"<jats:p>Congenital aniridia is a severe autosomal dominant congenital panocular disorder, mainly associated with pathogenic variants in the <jats:italic><jats:styled-content style=\"fixed-case\">PAX6<\/jats:styled-content><\/jats:italic> gene. The objective of the study was to investigate the mutational and clinical spectra of congenital aniridia in a cohort of 117 patients from Russia. Each patient underwent detailed ophthalmological examination. From 91 unrelated families, 110 patients were diagnosed with congenital aniridia and 7 with <jats:styled-content style=\"fixed-case\">WAGR<\/jats:styled-content> syndrome (Wilms tumor, Aniridia, Genitourinary anomalies, and mental Retardation syndrome). The clinical presentation in aniridia patients varied from the complete bilateral absence of the iris (75.5%) to partial aniridia or iris hypoplasia (24.5%). Additional ocular abnormalities were consistent with previous reports. In our cohort, we saw a previously not described high percentage of patients (45%) who showed non\u2010ocular phenotypes. Prevalence of deletions coherent with <jats:styled-content style=\"fixed-case\">WAGR<\/jats:styled-content> syndrome appeared to be 19.4% out of sporadic patients. Among the other aniridia cases, <jats:italic><jats:styled-content style=\"fixed-case\">PAX6<\/jats:styled-content><\/jats:italic> deletions were identified in 18 probands, and small intragenic changes were detected in 58 probands with 27 of these mutations being novel and 21 previously reported. In 3 families mosaic mutation was transmitted from a subtly affected parent. Therefore, <jats:italic><jats:styled-content style=\"fixed-case\">PAX6<\/jats:styled-content><\/jats:italic> mutations explained 96.7% of aniridia phenotypes in this study with only 3 of 91 probands lacking pathogenic variants in the gene.<\/jats:p>","DOI":"10.1111\/cge.13019","type":"journal-article","created":{"date-parts":[[2017,3,21]],"date-time":"2017-03-21T07:35:29Z","timestamp":1490081729000},"page":"639-644","source":"Crossref","is-referenced-by-count":38,"title":["Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of <i><scp>PAX6<\/scp><\/i> mutations"],"prefix":"10.1111","volume":"92","author":[{"given":"T.A.","family":"Vasilyeva","sequence":"first","affiliation":[{"name":"Federal State Budgetary Institution \u2018Research Center for Medical Genetics\u2019  Moscow Russian Federation"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.A.","family":"Voskresenskaya","sequence":"additional","affiliation":[{"name":"Department of Ambulant Surgery and Conservative Treatment Cheboksary Branch of S. Fyodorov Eye Microsurgery Federal State Institution  Cheboksary Russian Federation"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"K\u00e4smann\u2010Kellner","sequence":"additional","affiliation":[{"name":"German Aniridia Center at the Section of Pediatric Ophthalmology, Orthoptics, Low Vision &amp; Neuroophthalmology, Department of Ophthalmology Saarland University Homburg\/Saar  Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O.V.","family":"Khlebnikova","sequence":"additional","affiliation":[{"name":"Federal State Budgetary Institution \u2018Research Center for Medical Genetics\u2019  Moscow Russian Federation"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.A.","family":"Pozdeyeva","sequence":"additional","affiliation":[{"name":"Department of Ambulant Surgery and Conservative Treatment Cheboksary Branch of S. Fyodorov Eye Microsurgery Federal State Institution  Cheboksary Russian Federation"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.M.","family":"Bayazutdinova","sequence":"additional","affiliation":[{"name":"Federal State Budgetary Institution \u2018Research Center for Medical Genetics\u2019  Moscow Russian Federation"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.I.","family":"Kutsev","sequence":"additional","affiliation":[{"name":"Federal State Budgetary Institution \u2018Research Center for Medical Genetics\u2019  Moscow Russian Federation"},{"name":"Department of Molecular and Cell Genetics Pirogov Russian National Research Medical University  Moscow Russian Federation"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.K.","family":"Ginter","sequence":"additional","affiliation":[{"name":"Federal State Budgetary Institution \u2018Research Center for Medical Genetics\u2019  Moscow Russian Federation"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.V.","family":"Semina","sequence":"additional","affiliation":[{"name":"Division of Developmental Biology, Department of Pediatrics Medical College of Wisconsin  Milwaukee Wisconsin"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0972-5118","authenticated-orcid":false,"given":"A.V.","family":"Marakhonov","sequence":"additional","affiliation":[{"name":"Federal State Budgetary Institution \u2018Research Center for Medical Genetics\u2019  Moscow Russian Federation"},{"name":"Laboratory of Functional Analysis of the Genome Moscow Institute of Physics and Technology (State University)  Dolgoprudny Moscow Region Russian Federation"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.A.","family":"Zinchenko","sequence":"additional","affiliation":[{"name":"Federal State Budgetary Institution \u2018Research Center for Medical Genetics\u2019  Moscow Russian Federation"},{"name":"Department of Molecular and Cell Genetics Pirogov Russian National Research Medical University  Moscow Russian Federation"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,8,2]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.3109\/08820538.2013.825293"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01372.x"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21438"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.100"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/375555"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2156-6-27"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2004.08.003"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13353-013-0154-0"},{"key":"e_1_2_5_11_1","first-page":"548","article-title":"Large novel deletions detected in Chinese families with aniridia: correlation between genotype and phenotype","volume":"17","author":"Zhang X","year":"2011","journal-title":"Mol Vis"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1086\/344396"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.297"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2016.01.002"},{"key":"e_1_2_5_15_1","first-page":"2139","article-title":"Mutation spectrum of PAX6 in Chinese patients with aniridia","volume":"17","year":"2011","journal-title":"Mol Vis"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.13019","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13019","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T17:14:24Z","timestamp":1695489264000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13019"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8,2]]},"references-count":14,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2017,12]]}},"alternative-id":["10.1111\/cge.13019"],"URL":"https:\/\/doi.org\/10.1111\/cge.13019","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,8,2]]}}}