{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,10]],"date-time":"2026-01-10T02:50:09Z","timestamp":1768013409517,"version":"3.49.0"},"reference-count":41,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2014,4,12]],"date-time":"2014-04-12T00:00:00Z","timestamp":1397260800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01EY015518"],"award-info":[{"award-number":["R01EY015518"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["UL1RR031973"],"award-info":[{"award-number":["UL1RR031973"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006645","name":"Children's Hospital of Wisconsin","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100006645","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2014,11]]},"abstract":"<jats:p>Anophthalmia\/microphthalmia (A\/M) is a developmental ocular malformation defined as complete absence or reduction in size of the eye. A\/M is a heterogenous disorder with numerous causative genes identified; however, about half the cases lack a molecular diagnosis. We undertook whole exome sequencing in an A\/M family with two affected siblings, two unaffected siblings, and unaffected parents; the ocular phenotype was isolated with only mild developmental delay\/learning difficulties reported and a normal brain magnetic resonance imaging (<jats:styled-content style=\"fixed-case\">MRI<\/jats:styled-content>) in the proband at 16\u2009months. No pathogenic mutations were identified in 71 known A\/M genes. Further analysis identified a shared heterozygous mutation in <jats:italic><jats:styled-content style=\"fixed-case\">COL4A1<\/jats:styled-content>,<\/jats:italic> c.<jats:styled-content style=\"fixed-case\">2317G<\/jats:styled-content>&gt;A, p.(<jats:styled-content style=\"fixed-case\">Gly773Arg<\/jats:styled-content>) that was not seen in the unaffected parents and siblings. Analysis of 24 unrelated A\/M exomes identified a novel c.<jats:styled-content style=\"fixed-case\">2122G<\/jats:styled-content>&gt;A, p.(<jats:styled-content style=\"fixed-case\">Gly708Arg<\/jats:styled-content>) mutation in an additional patient with unilateral microphthalmia, bilateral microcornea and Peters anomaly; the mutation was absent in the unaffected mother and the unaffected father was not available. Mutations in <jats:italic><jats:styled-content style=\"fixed-case\">COL4A1<\/jats:styled-content><\/jats:italic> have been linked to a spectrum of human disorders; the most consistent feature is cerebrovascular disease with variable ocular anomalies, kidney and muscle defects. This study expands the spectrum of <jats:italic><jats:styled-content style=\"fixed-case\">COL4A1<\/jats:styled-content><\/jats:italic> phenotypes and indicates screening in patients with A\/M regardless of <jats:styled-content style=\"fixed-case\">MRI<\/jats:styled-content> findings or presumed inheritance pattern.<\/jats:p>","DOI":"10.1111\/cge.12379","type":"journal-article","created":{"date-parts":[[2014,3,14]],"date-time":"2014-03-14T19:30:26Z","timestamp":1394825426000},"page":"475-481","source":"Crossref","is-referenced-by-count":48,"title":["Whole exome analysis identifies dominant <i><scp>COL4A1<\/scp><\/i> mutations in patients with complex ocular phenotypes involving microphthalmia"],"prefix":"10.1111","volume":"86","author":[{"given":"B.","family":"Deml","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Children's Research Institute Medical College 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":"L.M.","family":"Reis","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Children's Research Institute Medical College of Wisconsin  Milwaukee WI USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Maheshwari","sequence":"additional","affiliation":[{"name":"Department of Radiology Medical College of Wisconsin  Milwaukee WI USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Griffis","sequence":"additional","affiliation":[{"name":"Division of Genetics Children's Hospital of Wisconsin  Milwaukee WI USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Bick","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Children's Research Institute Medical College of Wisconsin  Milwaukee WI USA"},{"name":"Division of Genetics Children's Hospital of Wisconsin  Milwaukee WI USA"}],"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  Milwaukee WI USA"},{"name":"Department of Cell Biology, Neurobiology and Anatomy Medical College of Wisconsin  Milwaukee WI 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