{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T03:08:46Z","timestamp":1778641726109,"version":"3.51.4"},"reference-count":14,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,9,8]],"date-time":"2017-09-08T00:00:00Z","timestamp":1504828800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001108","name":"The Ophthalmic Research Institute of Australia","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001108","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:p>This project expands the disease spectrum for mutations in <jats:italic>\n<jats:styled-content style=\"fixed-case\">GJA8<\/jats:styled-content>\n<\/jats:italic> to include total sclerocornea, rudimentary lenses and microphthalmia, in addition to this gene's previously known role in isolated congenital cataracts. Ophthalmic findings revealed bilateral total sclerocornea in 3 probands, with small abnormal lenses in 2 of the cases, and cataracts and microphthalmia in 1 case. Next\u2010generation sequencing revealed de novo heterozygous mutations affecting the same codon of <jats:italic>\n<jats:styled-content style=\"fixed-case\">GJA8<\/jats:styled-content>\n<\/jats:italic>: (c.<jats:styled-content style=\"fixed-case\">281G<\/jats:styled-content>&gt;A; p.(<jats:styled-content style=\"fixed-case\">Gly94Glu<\/jats:styled-content>) and c.<jats:styled-content style=\"fixed-case\">280G<\/jats:styled-content>&gt;C; p.(<jats:styled-content style=\"fixed-case\">Gly94Arg<\/jats:styled-content>)) in 2 of the probands, in addition to the c.<jats:styled-content style=\"fixed-case\">151G<\/jats:styled-content>&gt;A; p.(<jats:styled-content style=\"fixed-case\">Asp51Asn<\/jats:styled-content>) mutation we had previously identified in the third case. In silico analysis predicted all of the mutations to be pathogenic. These cases show that deleterious, heterozygous mutations in <jats:italic>\n<jats:styled-content style=\"fixed-case\">GJA8<\/jats:styled-content>\n<\/jats:italic> can lead to a severe ocular phenotype of total sclerocornea, abnormal lenses, and\/or cataracts with or without microphthalmia, broadening the phenotype associated with this gene. <jats:italic>\n<jats:styled-content style=\"fixed-case\">GJA8<\/jats:styled-content>\n<\/jats:italic> should be included when investigating patients with the severe anterior segment abnormality of total sclerocornea.<\/jats:p>","DOI":"10.1111\/cge.13045","type":"journal-article","created":{"date-parts":[[2017,4,29]],"date-time":"2017-04-29T18:38:25Z","timestamp":1493491105000},"page":"155-159","source":"Crossref","is-referenced-by-count":21,"title":["New mutations in <scp>GJA8<\/scp> expand the phenotype to include total sclerocornea"],"prefix":"10.1111","volume":"93","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9293-4753","authenticated-orcid":false,"given":"A.S.","family":"Ma","sequence":"first","affiliation":[{"name":"Eye Genetics Research Unit, The Children's Hospital at Westmead, Save Sight Institute, Children's Medical Research Institute University of Sydney  Sydney Australia"},{"name":"Department of Clinical Genetics, Western Sydney Genetics Program The Children's Hospital at Westmead  Sydney Australia"},{"name":"Disciplines of Genetic Medicine &amp; Child and Adolescent Health, Sydney Medical School University of Sydney  Sydney Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.R.","family":"Grigg","sequence":"additional","affiliation":[{"name":"Eye Genetics Research Unit, The Children's Hospital at Westmead, Save Sight Institute, Children's Medical Research Institute University of Sydney  Sydney Australia"},{"name":"Department of Ophthalmology The Children's Hospital at Westmead  Sydney Australia"},{"name":"Discipline of Ophthalmology, Sydney Medical School University of Sydney  Sydney Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Prokudin","sequence":"additional","affiliation":[{"name":"Eye Genetics Research Unit, The Children's Hospital at Westmead, Save Sight Institute, Children's Medical Research Institute University of Sydney  Sydney Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Flaherty","sequence":"additional","affiliation":[{"name":"Eye Genetics Research Unit, The Children's Hospital at Westmead, Save Sight Institute, Children's Medical Research Institute University of Sydney  Sydney Australia"},{"name":"Department of Ophthalmology The Children's Hospital at Westmead  Sydney Australia"},{"name":"Discipline of Ophthalmology, Sydney Medical School University of Sydney  Sydney Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Bennetts","sequence":"additional","affiliation":[{"name":"Disciplines of Genetic Medicine &amp; Child and Adolescent Health, Sydney Medical School University of Sydney  Sydney Australia"},{"name":"Department of Molecular Genetics, Western Sydney Genetics Program The Children's Hospital at Westmead  Sydney Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.V.","family":"Jamieson","sequence":"additional","affiliation":[{"name":"Eye Genetics Research Unit, The Children's Hospital at Westmead, Save Sight Institute, Children's Medical Research Institute University of Sydney  Sydney Australia"},{"name":"Department of Clinical Genetics, Western Sydney Genetics Program The Children's Hospital at Westmead  Sydney Australia"},{"name":"Disciplines of Genetic Medicine &amp; Child and Adolescent Health, Sydney Medical School University of Sydney  Sydney Australia"},{"name":"Discipline of Ophthalmology, Sydney Medical School University of Sydney  Sydney Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,9,8]]},"reference":[{"key":"e_1_2_5_2_1","volume-title":"Pediatric Ophthalmology and Strabismus","author":"Nischal KK","year":"2013"},{"issue":"5","key":"e_1_2_5_3_1","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1001\/archopht.1985.01050050068020","article-title":"Hereditary sclerocornea","volume":"103","author":"Elliott JH","year":"1985","journal-title":"Arch Ophthalmol"},{"issue":"10","key":"e_1_2_5_4_1","doi-asserted-by":"crossref","first-page":"1326","DOI":"10.1038\/sj.eye.6702840","article-title":"Congenital corneal opacities\u2014a surgical approach to nomenclature and classification","volume":"21","author":"Nischal KK","year":"2007","journal-title":"Eye (Lond)"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/ICU.0b013e328356893d"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22948"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.3389\/fphar.2013.00043"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.268"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.09-3759"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/ICO.0b013e318185268e"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30642"},{"key":"e_1_2_5_13_1","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1016\/B978-0-7020-4691-9.00002-9","volume-title":"Pediatric Ophthalmology and Strabismus","author":"Jamieson RV","year":"2013"},{"key":"e_1_2_5_14_1","first-page":"1162","article-title":"Homozygous FOXE3 mutations cause non\u2010syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma","volume":"16","author":"Ali M","year":"2010","journal-title":"Mol Vis"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.155"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.13045","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13045","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,30]],"date-time":"2023-09-30T01:59:43Z","timestamp":1696039183000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13045"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,9,8]]},"references-count":14,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,1]]}},"alternative-id":["10.1111\/cge.13045"],"URL":"https:\/\/doi.org\/10.1111\/cge.13045","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,9,8]]}}}