{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T02:37:03Z","timestamp":1777430223795,"version":"3.51.4"},"reference-count":21,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2018,5,16]],"date-time":"2018-05-16T00:00:00Z","timestamp":1526428800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001075","name":"Channel 7 Children's Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001075","id-type":"DOI","asserted-by":"publisher"}]},{"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"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2018,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Pediatric cataract is an important cause of blindness and visual impairment in children. A large proportion of pediatric cataracts are inherited, and many genes have been described for this heterogeneous Mendelian disease. Surveys of schools for the blind in Bhutan, Cambodia, and Sri Lanka have identified many children with this condition and we aimed to identify the genetic causes of inherited cataract in these populations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We screened, in parallel, 51 causative genes for inherited cataracts in 33 probands by Ampliseq enrichment and sequencing on an Ion Torrent <jats:styled-content style=\"fixed-case\">PGM<\/jats:styled-content>. Rare novel protein coding variants were assessed for segregation in family members, where possible, by Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified 24 rare (frequency &lt;1% in public databases) or novel protein coding variants in 12 probands and confirmed segregation of variants with disease in the extended family where possible. Of these, six are predicted to be the cause of disease in the patient, with four other variants also highly likely to be pathogenic.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study found that 20%\u201330% of patients in these countries have a mutation in a known cataract causing gene, which is considerably lower than the 60%\u201370% reported in Caucasian cohorts. This suggests that additional cataract genes remain to be discovered in this cohort of Asian pediatric cataract patients.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.406","type":"journal-article","created":{"date-parts":[[2018,5,17]],"date-time":"2018-05-17T01:14:49Z","timestamp":1526519689000},"page":"555-564","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Identification of novel mutations causing pediatric cataract in Bhutan, Cambodia, and Sri Lanka"],"prefix":"10.1002","volume":"6","author":[{"given":"Shari","family":"Javadiyan","sequence":"first","affiliation":[{"name":"Department of Ophthalmology School of Medicine Flinders University Adelaide SA Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sionne E. M.","family":"Lucas","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology School of Medicine Flinders University Adelaide SA Australia"},{"name":"Menzies Institute for Medical Research University of Tasmania Hobart Tas. Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dechen","family":"Wangmo","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology JDWNR Hospital Ministry of Health Thimphu Bhutan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meng","family":"Ngy","sequence":"additional","affiliation":[{"name":"National Program for Eye Health Phnom Penh Cambodia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kapila","family":"Edussuriya","sequence":"additional","affiliation":[{"name":"Center for Sight Teaching Hospital Kandy Sri Lanka"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jamie E.","family":"Craig","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology School of Medicine Flinders University Adelaide SA Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adam","family":"Rudkin","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology School of Medicine Flinders University Adelaide SA Australia"},{"name":"South Australian Institute for Ophthalmology University of Adelaide Adelaide SA Australia"},{"name":"Sight For All Adelaide SA Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Casson","sequence":"additional","affiliation":[{"name":"South Australian Institute for Ophthalmology University of Adelaide Adelaide SA Australia"},{"name":"Sight For All Adelaide SA Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dinesh","family":"Selva","sequence":"additional","affiliation":[{"name":"South Australian Institute for Ophthalmology University of Adelaide Adelaide SA Australia"},{"name":"Sight For All Adelaide SA Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shiwani","family":"Sharma","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology School of Medicine Flinders University Adelaide SA Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karen M.","family":"Lower","sequence":"additional","affiliation":[{"name":"Department of Haematology and Genetic Pathology School of Medicine Flinders University Adelaide SA Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James","family":"Meucke","sequence":"additional","affiliation":[{"name":"South Australian Institute for Ophthalmology University of Adelaide Adelaide SA Australia"},{"name":"Sight For All Adelaide SA Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8217-1249","authenticated-orcid":false,"given":"Kathryn P.","family":"Burdon","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology School of Medicine Flinders University Adelaide SA Australia"},{"name":"Menzies Institute for Medical Research University of Tasmania Hobart Tas. Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,5,16]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_7_3_1","unstructured":"Centres for Disease Control and Prevention(2013).WHO\/UNICEF coverage estiumates 2012 revision July 2013. Immunization Vaccines and Biologicals World Health Organisation. 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