{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T05:30:49Z","timestamp":1771651849217,"version":"3.50.1"},"reference-count":25,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2018,9,4]],"date-time":"2018-09-04T00:00:00Z","timestamp":1536019200000},"content-version":"vor","delay-in-days":3,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100009598","name":"AVL List","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100009598","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,9]]},"abstract":"<jats:p>Emanuel syndrome is caused by a supernumerary der(22)t(11;22) and typically manifests with intellectual disability and craniofacial dysmorphism. Ocular abnormalities have infrequently been described. We report a 36\u2010year\u2010old man with severe intellectual disability, aphasia, and facial dysmorphism, with high myopia and juvenile open angle glaucoma (JOAG). Microarray analysis results included 47,XY,+der(22)t(11;22)(q23;q11.2), and a 269 kb deletion of 7q31.33(125,898,014\u2010126,166,829). Two candidate genes were identified as possible etiologies for the ocular pathologies in our patient: a <jats:italic>MFRP<\/jats:italic> duplication on chromosome 11, which may play a role in high myopia and dysregulation of emmetropization, and a <jats:italic>GRM8<\/jats:italic> deletion on chromosome 7, which may cause glutamate\u2010induced excitotoxicity and therefore have a role in the development of JOAG, unrelated to the Emanuel syndrome genotype. We provide the first detailed description these ocular abnormalities in a patient with Emmanuel syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.a.40361","type":"journal-article","created":{"date-parts":[[2018,9,4]],"date-time":"2018-09-04T11:04:17Z","timestamp":1536059057000},"page":"1964-1967","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Ocular manifestations of Emanuel syndrome"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1859-9042","authenticated-orcid":false,"given":"Brooke D.","family":"Saffren","sequence":"first","affiliation":[{"name":"Philadelphia College of Osteopathic Medicine  Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8746-9113","authenticated-orcid":false,"given":"Jenina E.","family":"Capasso","sequence":"additional","affiliation":[{"name":"Wills Eye Hospital  Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mario","family":"Zanolli","sequence":"additional","affiliation":[{"name":"Wills Eye Hospital  Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5649-2978","authenticated-orcid":false,"given":"Alex V.","family":"Levin","sequence":"additional","affiliation":[{"name":"Wills Eye Hospital  Philadelphia Pennsylvania"},{"name":"Sydney Kimmel Medical College of Thomas Jefferson University  Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,9,4]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/382225a0"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273491"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroscience.2010.10.071"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32957"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.13.6.501"},{"key":"e_1_2_6_7_1","volume-title":"Emanuel syndrome","author":"Emanuel B. 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