{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T05:11:46Z","timestamp":1773724306013,"version":"3.50.1"},"reference-count":66,"publisher":"Oxford University Press (OUP)","issue":"10","license":[{"start":{"date-parts":[[2017,10,1]],"date-time":"2017-10-01T00:00:00Z","timestamp":1506816000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,10,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Pediatric cataract is a leading cause of childhood blindness. This study aimed to determine the genetic cause of pediatric cataract in Australian families by screening known disease-associated genes using massively parallel sequencing technology. We sequenced 51 previously reported pediatric cataract genes in 33 affected individuals with a family history (cases with previously known or published mutations were excluded) using the Ion Torrent Personal Genome Machine. Variants were prioritized for validation if they were predicted to alter the protein sequence and were absent or rare with minor allele frequency &amp;lt;1% in public databases. Confirmed mutations were assessed for segregation with the phenotype in all available family members. All identified novel or previously reported cataract-causing mutations were screened in 326 unrelated Australian controls. We detected 11 novel mutations in GJA3, GJA8, CRYAA, CRYBB2, CRYGS, CRYGA, GCNT2, CRYGA, and MIP; and three previously reported cataract-causing mutations in GJA8, CRYAA, and CRYBB2. The most commonly mutated genes were those coding for gap junctions and crystallin proteins. Including previous reports of pediatric cataract-associated mutations in our Australian cohort, known genes account for &amp;gt;60% of familial pediatric cataract in Australia, indicating that still more causative genes remain to be identified.<\/jats:p>","DOI":"10.1534\/g3.117.300109","type":"journal-article","created":{"date-parts":[[2017,8,25]],"date-time":"2017-08-25T01:00:36Z","timestamp":1503622836000},"page":"3257-3268","source":"Crossref","is-referenced-by-count":27,"title":["High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia"],"prefix":"10.1093","volume":"7","author":[{"given":"Shari","family":"Javadiyan","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, School of Medicine, Flinders University, Adelaide, South Australia 5042, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jamie E","family":"Craig","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, School of Medicine, Flinders University, Adelaide, South Australia 5042, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emmanuelle","family":"Souzeau","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, School of Medicine, Flinders University, Adelaide, South Australia 5042, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shiwani","family":"Sharma","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, School of Medicine, Flinders University, Adelaide, South Australia 5042, 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, South Australia 5042, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David A","family":"Mackey","sequence":"additional","affiliation":[{"name":"Centre for Ophthalmology and Visual Science, University of Western Australia, Lions Eye Institute, Perth, Western Australia 6009, Australia"},{"name":"Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria 3002, Australia"},{"name":"Department of Surgery, University of Melbourne, Victoria 3010, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandra E","family":"Staffieri","sequence":"additional","affiliation":[{"name":"Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria 3002, Australia"},{"name":"Department of Surgery, University of Melbourne, Victoria 3010, Australia"},{"name":"Department of Ophthalmology, Royal Children\u2019s Hospital, Melbourne, Victoria 3052, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James E","family":"Elder","sequence":"additional","affiliation":[{"name":"Department of Surgery, University of Melbourne, Victoria 3010, Australia"},{"name":"Department of Ophthalmology, Royal Children\u2019s Hospital, Melbourne, Victoria 3052, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deepa","family":"Taranath","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, School of Medicine, Flinders University, Adelaide, South Australia 5042, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tania","family":"Straga","sequence":"additional","affiliation":[{"name":"Ophthalmology Department, Women\u2019s and Children\u2019s Hospital, Adelaide, South Australia 5006, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joanna","family":"Black","sequence":"additional","affiliation":[{"name":"Ophthalmology Department, Women\u2019s and Children\u2019s Hospital, Adelaide, South Australia 5006, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Pater","sequence":"additional","affiliation":[{"name":"Ophthalmology Department, Women\u2019s and Children\u2019s Hospital, Adelaide, South Australia 5006, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Theresa","family":"Casey","sequence":"additional","affiliation":[{"name":"Ophthalmology Department, Women\u2019s and Children\u2019s Hospital, Adelaide, South Australia 5006, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alex W","family":"Hewitt","sequence":"additional","affiliation":[{"name":"Department of Surgery, University of Melbourne, Victoria 3010, Australia"},{"name":"Ophthalmology Department, Women\u2019s and Children\u2019s Hospital, Adelaide, South Australia 5006, Australia"},{"name":"Department of Paediatrics, University of Melbourne, Victoria 3010, Australia"},{"name":"Menzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania 7000, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathryn P","family":"Burdon","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, School of Medicine, Flinders University, Adelaide, South Australia 5042, Australia"},{"name":"Menzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania 7000, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2017,10,1]]},"reference":[{"key":"2021042013195889500_bib1","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations.","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat. Methods"},{"key":"2021042013195889500_bib2","doi-asserted-by":"crossref","first-page":"960","DOI":"10.1002\/humu.22071","article-title":"Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus.","volume":"33","author":"Aldahmesh","year":"2012","journal-title":"Hum. Mutat."},{"key":"2021042013195889500_bib3","first-page":"2931","article-title":"Novel crystallin gamma B mutations in a Kuwaiti family with autosomal dominant congenital cataracts reveal genetic and clinical heterogeneity.","volume":"18","author":"AlFadhli","year":"2012","journal-title":"Mol. Vis."},{"key":"2021042013195889500_bib4","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1093\/hmg\/9.3.363","article-title":"Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies.","volume":"9","author":"Azuma","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"2021042013195889500_bib5","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1038\/75538","article-title":"Missense mutations in MIP underlie autosomal dominant \u2018polymorphic\u2019 and lamellar cataracts linked to 12q.","volume":"25","author":"Berry","year":"2000","journal-title":"Nat. Genet."},{"key":"2021042013195889500_bib6","doi-asserted-by":"crossref","first-page":"1141","DOI":"10.1086\/324158","article-title":"Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans.","volume":"69","author":"Berry","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"2021042013195889500_bib7","doi-asserted-by":"crossref","first-page":"20","DOI":"10.3389\/fphys.2014.00020","article-title":"Connexin hemichannels in the lens.","volume":"5","author":"Beyer","year":"2014","journal-title":"Front. Physiol."},{"key":"2021042013195889500_bib8","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1007\/s00439-011-1062-1","article-title":"An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group.","volume":"131","author":"Borck","year":"2012","journal-title":"Hum. Genet."},{"key":"2021042013195889500_bib9","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1038\/ng921","article-title":"Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract.","volume":"31","author":"Bu","year":"2002","journal-title":"Nat. Genet."},{"key":"2021042013195889500_bib10","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1136\/bjo.88.1.79","article-title":"Investigation of crystallin genes in familial cataract, and report of two disease associated mutations.","volume":"88","author":"Burdon","year":"2004","journal-title":"Br. J. Ophthalmol."},{"key":"2021042013195889500_bib11","doi-asserted-by":"crossref","first-page":"e106","DOI":"10.1136\/jmg.2004.018333","article-title":"A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance.","volume":"41","author":"Burdon","year":"2004","journal-title":"J. Med. Genet."},{"key":"2021042013195889500_bib12","doi-asserted-by":"crossref","first-page":"742","DOI":"10.1002\/humu.9501","article-title":"A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start site.","volume":"28","author":"Burdon","year":"2007","journal-title":"Hum. Mutat."},{"key":"2021042013195889500_bib13","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1007\/s00431-012-1700-1","article-title":"Congenital and infantile cataract: aetiology and management.","volume":"171","author":"Chan","year":"2012","journal-title":"Eur. J. Pediatr."},{"key":"2021042013195889500_bib14","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1016\/j.ajhg.2011.05.008","article-title":"Mutations in FYCO1 cause autosomal-recessive congenital cataracts.","volume":"88","author":"Chen","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"2021042013195889500_bib15","doi-asserted-by":"crossref","first-page":"1234","DOI":"10.1098\/rstb.2010.0227","article-title":"Clinical and experimental advances in congenital and paediatric cataracts.","volume":"366","author":"Churchill","year":"2011","journal-title":"Philos. Trans. R. Soc. Lond. B Biol. Sci."},{"key":"2021042013195889500_bib16","doi-asserted-by":"crossref","first-page":"1753","DOI":"10.1001\/archopht.121.12.1753","article-title":"Hereditary hyperferritinemia-cataract syndrome: prevalence, lens morphology, spectrum of mutations, and clinical presentations.","volume":"121","author":"Craig","year":"2003","journal-title":"Arch. Ophthalmol."},{"key":"2021042013195889500_bib17","doi-asserted-by":"crossref","first-page":"e72518","DOI":"10.1371\/journal.pone.0072518","article-title":"Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia.","volume":"8","author":"Dave","year":"2013","journal-title":"PLoS One"},{"key":"2021042013195889500_bib18","first-page":"846","article-title":"Novel mutations in GJA3 associated with autosomal dominant congenital cataract in the Indian population.","volume":"11","author":"Devi","year":"2005","journal-title":"Mol. Vis."},{"key":"2021042013195889500_bib19","first-page":"1157","article-title":"Crystallin gene mutations in Indian families with inherited pediatric cataract.","volume":"14","author":"Devi","year":"2008","journal-title":"Mol. Vis."},{"key":"2021042013195889500_bib20","doi-asserted-by":"crossref","first-page":"115","DOI":"10.3109\/13816810.2012.707273","article-title":"A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family.","volume":"34","author":"Faletra","year":"2013","journal-title":"Ophthalmic Genet."},{"key":"2021042013195889500_bib21","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1038\/78071","article-title":"Human microphthalmia associated with mutations in the retinal homeobox gene CHX10.","volume":"25","author":"Ferda Percin","year":"2000","journal-title":"Nat. Genet."},{"key":"2021042013195889500_bib22","doi-asserted-by":"crossref","first-page":"2124","DOI":"10.1016\/j.ophtha.2014.06.006","article-title":"Personalized diagnosis and management of congenital cataract by next-generation sequencing.","volume":"121","author":"Gillespie","year":"2014","journal-title":"Ophthalmology"},{"key":"2021042013195889500_bib23","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1016\/j.semcdb.2007.10.003","article-title":"Congenital cataracts and their molecular genetics.","volume":"19","author":"Hejtmancik","year":"2008","journal-title":"Semin. Cell Dev. Biol."},{"key":"2021042013195889500_bib24","doi-asserted-by":"crossref","first-page":"1261","DOI":"10.1086\/302619","article-title":"The gamma-crystallins and human cataracts: a puzzle made clearer.","volume":"65","author":"Heon","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"2021042013195889500_bib25","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1016\/j.ejmg.2010.07.001","article-title":"Molecular characteristics of inherited congenital cataracts.","volume":"53","author":"Huang","year":"2010","journal-title":"Eur. J. Med. Genet."},{"key":"2021042013195889500_bib26","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1016\/j.ajhg.2011.09.014","article-title":"Mutation altering the miR-184 seed region causes familial keratoconus with cataract.","volume":"89","author":"Hughes","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"2021042013195889500_bib27","doi-asserted-by":"crossref","first-page":"1432","DOI":"10.1086\/302872","article-title":"Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2.","volume":"66","author":"Jakobs","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"2021042013195889500_bib28","doi-asserted-by":"crossref","first-page":"968","DOI":"10.1002\/humu.20545","article-title":"Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation.","volume":"28","author":"Jamieson","year":"2007","journal-title":"Hum. Mutat."},{"key":"2021042013195889500_bib29","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1186\/s13104-016-1890-0","article-title":"Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract.","volume":"9","author":"Javadiyan","year":"2016","journal-title":"BMC Res. Notes"},{"key":"2021042013195889500_bib30","first-page":"21","article-title":"Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3\/A1-crystallin gene.","volume":"4","author":"Kannabiran","year":"1998","journal-title":"Mol. Vis."},{"key":"2021042013195889500_bib31","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1016\/j.ajo.2007.08.005","article-title":"Recessive congenital total cataract with microcornea and heterozygote carrier signs caused by a novel missense CRYAA mutation (R54C).","volume":"144","author":"Khan","year":"2007","journal-title":"Am. J. Ophthalmol."},{"key":"2021042013195889500_bib32","doi-asserted-by":"crossref","first-page":"1289","DOI":"10.1093\/bioinformatics\/btm091","article-title":"Enhancements and modifications of primer design program Primer3.","volume":"23","author":"Koressaar","year":"2007","journal-title":"Bioinformatics"},{"key":"2021042013195889500_bib33","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/nprot.2009.86","article-title":"Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm.","volume":"4","author":"Kumar","year":"2009","journal-title":"Nat. Protoc."},{"key":"2021042013195889500_bib34","doi-asserted-by":"crossref","first-page":"1571","DOI":"10.1126\/science.1195970","article-title":"Mutations in the RNA granule component TDRD7 cause cataract and glaucoma.","volume":"331","author":"Lachke","year":"2011","journal-title":"Science"},{"key":"2021042013195889500_bib35","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1016\/j.ajhg.2017.01.004","article-title":"InterVar: clinical interpretation of genetic variants by the 2015 ACMG-AMP guidelines.","volume":"100","author":"Li","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"2021042013195889500_bib36","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1093\/hmg\/6.5.665","article-title":"Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2.","volume":"6","author":"Litt","year":"1997","journal-title":"Hum. Mol. Genet."},{"key":"2021042013195889500_bib37","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1093\/hmg\/7.3.471","article-title":"Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA.","volume":"7","author":"Litt","year":"1998","journal-title":"Hum. Mol. Genet."},{"key":"2021042013195889500_bib38","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1007\/s00347-007-1557-2","article-title":"Genetische Untersuchungen bei kongenitaler Katarakt.","volume":"104","author":"Lorenz","year":"2007","journal-title":"Ophthalmologe"},{"key":"2021042013195889500_bib39","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1002\/humu.22948","article-title":"Sporadic and familial congenital cataracts: mutational spectrum and new diagnoses using next-generation sequencing.","volume":"37","author":"Ma","year":"2016","journal-title":"Hum. Mutat."},{"key":"2021042013195889500_bib40","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1007\/s003350010281","article-title":"Two interactive genes responsible for a new inherited cataract (RCT) in the mouse.","volume":"12","author":"Maeda","year":"2001","journal-title":"Mamm. Genome"},{"key":"2021042013195889500_bib41","doi-asserted-by":"crossref","first-page":"1179","DOI":"10.1046\/j.1365-2141.2002.03690.x","article-title":"Mutation spectrum in Australian pedigrees with hereditary hyperferritinaemia-cataract syndrome reveals novel and de novo mutations.","volume":"118","author":"McLeod","year":"2002","journal-title":"Br. J. Haematol."},{"key":"2021042013195889500_bib42","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1055\/s-0031-1287825","article-title":"Hereditary hyperferritinemia cataract syndrome: clinical, genetic, and laboratory findings in 5 families.","volume":"223","author":"Nonnenmacher","year":"2011","journal-title":"Klin. Padiatr."},{"key":"2021042013195889500_bib43","doi-asserted-by":"crossref","first-page":"1363","DOI":"10.1086\/340318","article-title":"A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family.","volume":"70","author":"Pras","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"2021042013195889500_bib44","doi-asserted-by":"crossref","first-page":"1940","DOI":"10.1167\/iovs.03-1117","article-title":"A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts.","volume":"45","author":"Pras","year":"2004","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"2021042013195889500_bib45","first-page":"1444","article-title":"Measuring and interpreting the incidence of congenital ocular anomalies: lessons from a national study of congenital cataract in the UK.","volume":"42","author":"Rahi","year":"2001","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"2021042013195889500_bib46","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1007\/s00439-006-0319-6","article-title":"Autosomal recessive juvenile onset cataract associated with mutation in BFSP1.","volume":"121","author":"Ramachandran","year":"2007","journal-title":"Hum. Genet."},{"key":"2021042013195889500_bib47","doi-asserted-by":"crossref","first-page":"662","DOI":"10.1002\/pd.1734","article-title":"Prenatal detection of congenital bilateral cataract leading to the diagnosis of Nance-Horan syndrome in the extended family.","volume":"27","author":"Reches","year":"2007","journal-title":"Prenat. Diagn."},{"key":"2021042013195889500_bib48","doi-asserted-by":"crossref","first-page":"1224","DOI":"10.1038\/ejhg.2012.80","article-title":"PITX2 and FOXC1 spectrum of mutations in ocular syndromes.","volume":"20","author":"Reis","year":"2012","journal-title":"Eur. J. Hum. Genet."},{"key":"2021042013195889500_bib49","doi-asserted-by":"crossref","first-page":"2100","DOI":"10.1167\/iovs.04-1481","article-title":"Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families.","volume":"46","author":"Riazuddin","year":"2005","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"2021042013195889500_bib50","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"2021042013195889500_bib51","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1590\/S0004-27492011000200016","article-title":"The genetic and molecular basis of congenital cataract.","volume":"74","author":"Santana","year":"2011","journal-title":"Arq. Bras. Oftalmol."},{"key":"2021042013195889500_bib52","first-page":"793","article-title":"Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families.","volume":"15","author":"Santana","year":"2009","journal-title":"Mol. Vis."},{"key":"2021042013195889500_bib53","first-page":"1837","article-title":"Molecular analysis of cataract families in India: new mutations in the CRYBB2 and GJA3 genes and rare polymorphisms.","volume":"16","author":"Santhiya","year":"2010","journal-title":"Mol. Vis."},{"key":"2021042013195889500_bib54","first-page":"1856","article-title":"Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform.","volume":"14","author":"Sharma","year":"2008","journal-title":"Mol. Vis."},{"key":"2021042013195889500_bib55","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1086\/519980","article-title":"CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q.","volume":"81","author":"Shiels","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"2021042013195889500_bib56","first-page":"2042","article-title":"The EPHA2 gene is associated with cataracts linked to chromosome 1p.","volume":"14","author":"Shiels","year":"2008","journal-title":"Mol. Vis."},{"key":"2021042013195889500_bib57","first-page":"2007","article-title":"Cat-Map: putting cataract on the map.","volume":"16","author":"Shiels","year":"2010","journal-title":"Mol. Vis."},{"key":"2021042013195889500_bib58","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1001\/archopht.125.2.165","article-title":"Genetic origins of cataract.","volume":"125","author":"Shiels","year":"2007","journal-title":"Arch. Ophthalmol."},{"key":"2021042013195889500_bib59","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1038\/ejhg.2017.33","article-title":"Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract.","volume":"25","author":"Siggs","year":"2017","journal-title":"Eur. J. Hum. Genet."},{"key":"2021042013195889500_bib60","doi-asserted-by":"crossref","first-page":"e115","DOI":"10.1093\/nar\/gks596","article-title":"Primer3\u2013new capabilities and interfaces.","volume":"40","author":"Untergasser","year":"2012","journal-title":"Nucleic Acids Res."},{"key":"2021042013195889500_bib61","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1002\/ajmg.a.31572","article-title":"Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes.","volume":"143","author":"Van Esch","year":"2007","journal-title":"Am. J. Med. Genet. A."},{"key":"2021042013195889500_bib62","first-page":"1171","article-title":"A mutation in GJA8 (p.P88Q) is associated with \u201cballoon-like\u201d cataract with Y-sutural opacities in a family of Indian origin.","volume":"17","author":"Vanita","year":"2008","journal-title":"Mol. Vis."},{"key":"2021042013195889500_bib63","first-page":"587","article-title":"CRYBB1 mutation associated with congenital cataract and microcornea.","volume":"11","author":"Willoughby","year":"2005","journal-title":"Mol. Vis."},{"key":"2021042013195889500_bib64","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1136\/bjo.86.7.782","article-title":"Aetiology of congenital and paediatric cataract in an Australian population.","volume":"86","author":"Wirth","year":"2002","journal-title":"Br. J. Ophthalmol."},{"key":"2021042013195889500_bib65","first-page":"422","article-title":"Epidemiology and molecular genetics of congenital cataracts.","volume":"4","author":"Yi","year":"2011","journal-title":"Int. J. Ophthalmol."},{"key":"2021042013195889500_bib66","first-page":"1019","article-title":"A missense mutation in CRYBA4 associated with congenital cataract and microcornea.","volume":"16","author":"Zhou","year":"2010","journal-title":"Mol. Vis."}],"container-title":["G3 Genes|Genomes|Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/g3journal\/article-pdf\/7\/10\/3257\/37176578\/g3journal3257.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/g3journal\/article-pdf\/7\/10\/3257\/37176578\/g3journal3257.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,21]],"date-time":"2021-04-21T01:26:41Z","timestamp":1618968401000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/g3journal\/article\/7\/10\/3257\/6027459"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,10,1]]},"references-count":66,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2017,10,1]]}},"URL":"https:\/\/doi.org\/10.1534\/g3.117.300109","relation":{},"ISSN":["2160-1836"],"issn-type":[{"value":"2160-1836","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2017,10,1]]},"published":{"date-parts":[[2017,10,1]]}}}