{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:46:47Z","timestamp":1787014007899,"version":"build-2736575974"},"reference-count":46,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2013,6,17]],"date-time":"2013-06-17T00:00:00Z","timestamp":1371427200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2013,11]]},"abstract":"<jats:p>\n                    Anophthalmia\/microphthalmia (A\/M) represent severe developmental ocular malformations. Currently, mutations in known genes explain less than 40% of A\/M cases. We performed whole\u2010genome copy number variation analysis in 60 patients affected with isolated or syndromic A\/M. Pathogenic deletions of 3q26 (\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">SOX2<\/jats:styled-content>\n                    <\/jats:italic>\n                    ) were identified in four independent patients with syndromic microphthalmia. Other variants of interest included regions with a known role in human disease (likely pathogenic) as well as novel rearrangements (uncertain significance). A 2.2\u2010Mb duplication of 3q29 in a patient with non\u2010syndromic anophthalmia and an 877\u2010kb duplication of 11p13 (\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">PAX6<\/jats:styled-content>\n                    <\/jats:italic>\n                    ) and a 1.4\u2010Mb deletion of 17q11.2 (\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">NF1<\/jats:styled-content>\n                    <\/jats:italic>\n                    ) in two independent probands with syndromic microphthalmia and other ocular defects were identified; while ocular anomalies have been previously associated with 3q29 duplications,\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">PAX6<\/jats:styled-content>\n                    <\/jats:italic>\n                    duplications, and\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">NF1<\/jats:styled-content>\n                    <\/jats:italic>\n                    mutations in some cases, the ocular phenotypes observed here are more severe than previously reported. Three novel regions of possible interest included a 2q14.2 duplication which cosegregated with microphthalmia\/microcornea and congenital cataracts in one family, and 2q21 and 15q26 duplications in two additional cases; each of these regions contains genes that are active during vertebrate ocular development. Overall, this study identified causative copy number mutations and regions with a possible role in ocular disease in 17% of A\/M cases.\n                  <\/jats:p>","DOI":"10.1111\/cge.12202","type":"journal-article","created":{"date-parts":[[2013,5,22]],"date-time":"2013-05-22T17:23:58Z","timestamp":1369243438000},"page":"473-481","source":"Crossref","is-referenced-by-count":48,"title":["Whole\u2010genome copy number variation analysis in anophthalmia and microphthalmia"],"prefix":"10.1111","volume":"84","author":[{"given":"KF","family":"Schilter","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"},{"name":"Department of Cell Biology, Neurobiology and Anatomy Medical College of Wisconsin Milwaukee WI USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"LM","family":"Reis","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":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Schneider","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Pediatrics Albert Einstein Medical Center Philadelphia PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"TM","family":"Bardakjian","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Pediatrics Albert Einstein Medical Center Philadelphia PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O","family":"Abdul\u2010Rahman","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Mississippi Medical Center Jackson MS USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"BA","family":"Kozel","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomic 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