{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T21:54:22Z","timestamp":1791064462006,"version":"4.1.0"},"reference-count":84,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T00:00:00Z","timestamp":1772064000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>Congenital cataract is a major cause of blindness and severe visual impairment in children. It may occur as an isolated ocular abnormality or in combination with microcornea, microphthalmia, aniridia, or glaucoma. It can also be part of syndromic conditions. Whole-exome sequencing (WES) is now recognized as an appropriate first-line approach for genetic testing in patients with congenital cataract. In this study, we use WES to characterize the genotype spectrum in a pediatric cataract cohort from southern China.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>In this study, we aimed to clarify the genetic basis of congenital cataract in 40 families from southern China by WES. All candidate variants were confirmed by Sanger sequencing. After bioinformatic analysis, we prioritized rare or novel variants predicted to have moderate to damaging effects and assessed their segregation within each family.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      In this cohort of 40 probands with congenital cataract, pathogenic\/likely pathogenic variants were identified in 15 (37.5%) individuals, including 6 sporadic cases and 9 familial cases. The identified variants involved 12 genes (\n                      <jats:italic>CRYBB3<\/jats:italic>\n                      ,\n                      <jats:italic>CRYBB2<\/jats:italic>\n                      ,\n                      <jats:italic>CRYGS<\/jats:italic>\n                      ,\n                      <jats:italic>CRYAA<\/jats:italic>\n                      ,\n                      <jats:italic>GJA8<\/jats:italic>\n                      ,\n                      <jats:italic>MIP<\/jats:italic>\n                      ,\n                      <jats:italic>NHS<\/jats:italic>\n                      ,\n                      <jats:italic>BCOR<\/jats:italic>\n                      ,\n                      <jats:italic>COL11A1<\/jats:italic>\n                      ,\n                      <jats:italic>PAX6<\/jats:italic>\n                      ,\n                      <jats:italic>FTL<\/jats:italic>\n                      , and\n                      <jats:italic>FYCO1<\/jats:italic>\n                      ). In total, 15 pathogenic\/likely pathogenic variants were detected, of which 7 were novel. Among genotype-positive patients, seven presented with syndromic cataract, whereas eight had non-syndromic cataract.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>\n                      This study performed WES in 40 probands with congenital cataracts from southern China and achieved a molecular diagnostic yield of 37.5%. Pathogenic\/likely pathogenic variants were predominantly identified in crystallin genes, genes encoding lens membrane proteins, and genes implicated in syndromic forms of disease. Notably, a substantial proportion of apparently sporadic cases harbored variants suggestive of a\n                      <jats:italic>de novo<\/jats:italic>\n                      origin. These findings support the clinical utility of WES in clarifying the genetic basis of genetically heterogeneous congenital cataract. They also underscore the limitations of WES compared with whole-genome sequencing (WGS) and highlight the need for larger cohorts and functional validation of candidate variants.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fgene.2026.1744173","type":"journal-article","created":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T01:59:43Z","timestamp":1772071183000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":2,"title":["Genetic analysis and clinical characteristics of sporadic and familial congenital cataracts in southern Chinese families"],"prefix":"10.3389","volume":"17","author":[{"given":"Teng","family":"Huang","sequence":"first","affiliation":[{"name":"National Clinical Research Center for Ocular Diseases, Eye Hospital, Wenzhou Medical University","place":["Wenzhou, China"]},{"name":"Cataract Center, The People\u2019s Hospital of Hebi","place":["Hebi, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hai-Sen","family":"Sun","sequence":"additional","affiliation":[{"name":"National Clinical Research Center for Ocular Diseases, Eye Hospital, Wenzhou Medical University","place":["Wenzhou, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ya-Nan","family":"Liu","sequence":"additional","affiliation":[{"name":"National Clinical Research Center for Ocular Diseases, Eye Hospital, Wenzhou Medical University","place":["Wenzhou, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiu-Ling","family":"Xie","sequence":"additional","affiliation":[{"name":"National Clinical Research Center for Ocular Diseases, Eye Hospital, Wenzhou Medical University","place":["Wenzhou, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yang","family":"Liu","sequence":"additional","affiliation":[{"name":"National Clinical Research Center for Ocular Diseases, Eye Hospital, Wenzhou Medical University","place":["Wenzhou, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xue-Chuan","family":"Miao","sequence":"additional","affiliation":[{"name":"National Clinical Research Center for Ocular Diseases, Eye Hospital, Wenzhou Medical University","place":["Wenzhou, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenhui","family":"Wu","sequence":"additional","affiliation":[{"name":"Institute of PSI Genomics, Wenzhou Global Eye and Vision Innovation Center","place":["Wenzhou, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin","family":"Li","sequence":"additional","affiliation":[{"name":"National Clinical Research Center for Ocular Diseases, Eye Hospital, Wenzhou Medical University","place":["Wenzhou, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,2,26]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1517","DOI":"10.1002\/humu.23626","article-title":"Recommendations for interpreting the loss of function PVS1 ACMG\/AMP variant criterion","volume":"39","author":"Abou Tayoun","year":"2018","journal-title":"Hum. Mutat."},{"key":"B2","doi-asserted-by":"publisher","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":"B3","first-page":"1305","article-title":"Run-on mutation in the PAX6 gene and chorioretinal degeneration in autosomal dominant aniridia","volume":"17","author":"Aggarwal","year":"2011","journal-title":"Mol. Vis."},{"key":"B4","doi-asserted-by":"publisher","first-page":"125","DOI":"10.1016\/s0039-6257(02)00462-9","article-title":"The morphology and natural history of childhood cataracts","volume":"48","author":"Amaya","year":"2003","journal-title":"Surv. Ophthalmol."},{"key":"B5","doi-asserted-by":"publisher","first-page":"471","DOI":"10.1002\/humu.23395","article-title":"Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects","volume":"39","author":"Anand","year":"2018","journal-title":"Hum. Mutat."},{"key":"B6","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1038\/358239a0","article-title":"The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase","volume":"358","author":"Attree","year":"1992","journal-title":"Nature"},{"key":"B7","doi-asserted-by":"publisher","first-page":"1565","DOI":"10.1086\/375555","article-title":"Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations","volume":"72","author":"Azuma","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"B8","doi-asserted-by":"publisher","first-page":"657","DOI":"10.1038\/eye.2010.234","article-title":"A [c.566-2A>G] heterozygous mutation in the PAX6 gene causes aniridia with mild visual impairment","volume":"25","author":"Beby","year":"2011","journal-title":"Eye (Lond)."},{"key":"B9","doi-asserted-by":"publisher","first-page":"1331","DOI":"10.1136\/bjophthalmol-2019-315282","article-title":"Inherited cataracts: molecular genetics, clinical features, disease mechanisms and novel therapeutic approaches","volume":"104","author":"Berry","year":"","journal-title":"Br. J. Ophthalmol."},{"key":"B10","doi-asserted-by":"publisher","first-page":"333","DOI":"10.1186\/s13023-020-01613-3","article-title":"The genetic landscape of crystallins in congenital cataract","volume":"15","author":"Berry","year":"","journal-title":"Orphanet J. Rare Dis."},{"key":"B11","doi-asserted-by":"publisher","first-page":"43","DOI":"10.3389\/fphar.2013.00043","article-title":"Connexin mutants and cataracts","volume":"4","author":"Beyer","year":"2013","journal-title":"Front. Pharmacol."},{"key":"B12","doi-asserted-by":"publisher","first-page":"105","DOI":"10.3390\/jpm10030105","article-title":"Stickler Syndrome: a review of clinical manifestations and the genetics evaluation","volume":"10","author":"Boothe","year":"2020","journal-title":"J. Pers. Med."},{"key":"B13","doi-asserted-by":"publisher","first-page":"1120","DOI":"10.1086\/379381","article-title":"Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation","volume":"73","author":"Burdon","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"B14","doi-asserted-by":"publisher","first-page":"3280","DOI":"10.1182\/blood.V95.11.3280","article-title":"Translational pathophysiology: a novel molecular mechanism of human disease","volume":"95","author":"Cazzola","year":"2000","journal-title":"Blood"},{"key":"B15","doi-asserted-by":"publisher","first-page":"1318","DOI":"10.1056\/NEJM199105093241904","article-title":"Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function","volume":"324","author":"Charnas","year":"1991","journal-title":"N. Engl. J. Med."},{"key":"B16","doi-asserted-by":"publisher","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":"B17","doi-asserted-by":"publisher","first-page":"2207","DOI":"10.1167\/iovs.17-21469","article-title":"Molecular genetic analysis of Pakistani families with autosomal recessive congenital cataracts by homozygosity screening","volume":"58","author":"Chen","year":"2017","journal-title":"Invest Ophthalmol. Vis. Sci."},{"key":"B18","doi-asserted-by":"publisher","first-page":"1077","DOI":"10.3760\/cma.j.cn511374-20200817-00603","article-title":"Identification of a novel variant of NHS gene underlying Nance-Horan syndrome","volume":"38","author":"Chen","year":"2021","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"key":"B19","first-page":"2139","article-title":"Eye anomalies and neurological manifestations in patients with PAX6 mutations","volume":"15","author":"Chien","year":"2009","journal-title":"Mol. Vis."},{"key":"B20","doi-asserted-by":"publisher","first-page":"2846","DOI":"10.1016\/j.febslet.2012.07.037","article-title":"Inositol polyphosphate 5-phosphatases; new players in the regulation of cilia and ciliopathies","volume":"586","author":"Conduit","year":"2012","journal-title":"FEBS Lett."},{"key":"B21","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1186\/s40246-023-00451-1","article-title":"SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation","volume":"17","author":"de Sainte Agathe","year":"2023","journal-title":"Hum. Genomics"},{"key":"B22","first-page":"88","article-title":"Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia","volume":"21","author":"Dubey","year":"2015","journal-title":"Mol. Vis."},{"key":"B23","doi-asserted-by":"publisher","first-page":"1865","DOI":"10.1038\/s41433-019-0509-9","article-title":"The infrared reflex: a potential new method for congenital cataract screening","volume":"33","author":"Duret","year":"2019","journal-title":"Eye (Lond)."},{"key":"B24","article-title":"ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2024 (v1.2)","author":"Durkie","year":"2024","journal-title":"Assoc. Clin. Genomic Sci. (ACGS)"},{"key":"B25","doi-asserted-by":"publisher","first-page":"77","DOI":"10.2147\/IMCRJ.S125103","article-title":"A glucokinase gene mutation in a young boy with diabetes mellitus, hyperinsulinemia, and insulin resistance","volume":"10","author":"Emelyanov","year":"2017","journal-title":"Int. Med. Case Rep. J."},{"key":"B26","doi-asserted-by":"publisher","first-page":"1002","DOI":"10.1038\/ncb1913","article-title":"BCOR regulates mesenchymal stem cell function by epigenetic mechanisms","volume":"11","author":"Fan","year":"2009","journal-title":"Nat. Cell Biol."},{"key":"B27","doi-asserted-by":"publisher","first-page":"824550","DOI":"10.3389\/fgene.2022.824550","article-title":"Case report: a novel mutation in the CRYGD gene causing congenital cataract associated with nystagmus in a Chinese family","volume":"13","author":"Gao","year":"2022","journal-title":"Front. Genet."},{"key":"B28","doi-asserted-by":"publisher","first-page":"1525","DOI":"10.1002\/humu.23642","article-title":"Updated recommendation for the benign stand-alone ACMG\/AMP criterion","volume":"39","author":"Ghosh","year":"2018","journal-title":"Hum. Mutat."},{"key":"B29","first-page":"227","article-title":"Childhood blindness in the context of VISION 2020--the right to sight","volume":"79","author":"Gilbert","year":"2001","journal-title":"Bull. World Health Organ"},{"key":"B30","doi-asserted-by":"publisher","first-page":"4050","DOI":"10.1182\/blood.V86.11.4050.4050","article-title":"Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: a mutation in the iron-responsive element of ferritin L-subunit gene (the \u201cVerona mutation\u201d)","volume":"86","author":"Girelli","year":"1995","journal-title":"Blood"},{"key":"B31","doi-asserted-by":"publisher","first-page":"290","DOI":"10.1002\/(SICI)1096-8628(19960503)63:1<290::AID-AJMG47>3.0.CO;2-G","article-title":"Oculo-facio-cardio-dental (OFCD) syndrome","volume":"63","author":"Gorlin","year":"1996","journal-title":"Am. J. Med. Genet."},{"key":"B32","doi-asserted-by":"publisher","first-page":"2292","DOI":"10.1016\/j.ophtha.2004.06.024","article-title":"A nationwide Danish study of 1027 cases of congenital\/infantile cataracts: etiological and clinical classifications","volume":"111","author":"Haargaard","year":"2004","journal-title":"Ophthalmology"},{"key":"B33","doi-asserted-by":"publisher","first-page":"3937","DOI":"10.1167\/iovs.07-0013","article-title":"Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8","volume":"48","author":"Hansen","year":"2007","journal-title":"Invest Ophthalmol. Vis. Sci."},{"key":"B85","first-page":"303","article-title":"Radiculomegaly of canines and congenital cataracts\u2014a syndrome?","volume":"149","author":"Hayward","year":"1980","journal-title":"Br. Dent. J."},{"key":"B34","doi-asserted-by":"publisher","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":"B35","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1002\/humu.21391","article-title":"From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes","volume":"32","author":"Hichri","year":"2011","journal-title":"Hum. Mutat."},{"key":"B36","doi-asserted-by":"publisher","first-page":"424","DOI":"10.1167\/iovs.16-20705","article-title":"Genome-Wide detection of copy number variations in Unsolved inherited retinal disease","volume":"58","author":"Huang","year":"2017","journal-title":"Invest Ophthalmol. Vis. Sci."},{"key":"B37","doi-asserted-by":"publisher","first-page":"877","DOI":"10.1016\/j.ajhg.2016.08.016","article-title":"REVEL: an ensemble method for predicting the pathogenicity of rare missense variants","volume":"99","author":"Ioannidis","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"B38","doi-asserted-by":"publisher","first-page":"578","DOI":"10.1002\/ajmg.c.31837","article-title":"Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom","volume":"184","author":"Jackson","year":"2020","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"B39","doi-asserted-by":"publisher","first-page":"665","DOI":"10.1016\/j.str.2013.02.013","article-title":"Structure of the polycomb group protein PCGF1 in complex with BCOR reveals basis for binding selectivity of PCGF homologs","volume":"21","author":"Junco","year":"2013","journal-title":"Structure"},{"key":"B40","doi-asserted-by":"publisher","first-page":"359","DOI":"10.1038\/s41431-017-0032-z","article-title":"Congenital diaphragmatic hernia as a part of Nance-Horan syndrome","volume":"26","author":"Kammoun","year":"2018","journal-title":"Eur. J. Hum. Genet."},{"key":"B41","doi-asserted-by":"publisher","first-page":"9569","DOI":"10.3390\/ijms21249569","article-title":"Application of WES towards molecular investigation of congenital cataracts: identification of novel alleles and genes in a hospital-based cohort of South India","volume":"21","author":"Kandaswamy","year":"2020","journal-title":"Int. J. Mol. Sci."},{"key":"B42","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1080\/13816810802078195","article-title":"PAX6 analysis of two unrelated families from the Arabian Peninsula with classic hereditary aniridia","volume":"29","author":"Khan","year":"2008","journal-title":"Ophthalmic Genet."},{"key":"B43","doi-asserted-by":"publisher","first-page":"708","DOI":"10.1111\/j.1755-3768.2008.01427.x","article-title":"Aniridia: current pathology and management","volume":"86","author":"Lee","year":"2008","journal-title":"Acta Ophthalmol."},{"key":"B44","first-page":"589","article-title":"Distribution of gene mutations in sporadic congenital cataract in a Han Chinese population","volume":"22","author":"Li","year":"2016","journal-title":"Mol. Vis."},{"key":"B45","doi-asserted-by":"publisher","first-page":"94","DOI":"10.1186\/s13023-018-0828-0","article-title":"Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract","volume":"13","author":"Li","year":"2018","journal-title":"Orphanet J. Rare Dis."},{"key":"B46","first-page":"3116","article-title":"PAX6 analysis of one family and one sporadic patient from southern China with classic aniridia","volume":"17","author":"Lin","year":"2011","journal-title":"Mol. Vis."},{"key":"B47","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1159\/000327593","article-title":"Mutation analysis of PAX6 in a Chinese family and a patient with a presumed sporadic case of congenital aniridia","volume":"47","author":"Luo","year":"2012","journal-title":"Ophthalmic Res."},{"key":"B48","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1186\/1750-1172-8-30","article-title":"Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome","volume":"8","author":"Luscieti","year":"2013","journal-title":"Orphanet J. Rare Dis."},{"key":"B49","doi-asserted-by":"publisher","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":"B50","doi-asserted-by":"publisher","first-page":"580","DOI":"10.1136\/jmedgenet-2011-100223","article-title":"What can exome sequencing do for you","volume":"48","author":"Majewski","year":"2011","journal-title":"J. Med. Genet."},{"key":"B51","doi-asserted-by":"publisher","first-page":"e71256","DOI":"10.7554\/eLife.71256","article-title":"Disruption of PIKFYVE causes congenital cataract in human and zebrafish","volume":"11","author":"Mei","year":"2022","journal-title":"Elife"},{"key":"B52","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1111\/j.1399-0004.2010.01517.x","article-title":"Identification of the mutations associated with hereditary hyperferritinemia cataract syndrome and hemochromatosis in a Brazilian family","volume":"79","author":"Meneses","year":"2011","journal-title":"Clin. Genet."},{"key":"B53","doi-asserted-by":"publisher","first-page":"935","DOI":"10.3390\/cancers13050935","article-title":"Collagen type XI alpha 1 (COL11A1): a novel biomarker and a key player in cancer","volume":"13","author":"Nallanthighal","year":"2021","journal-title":"Cancers (Basel)"},{"key":"B54","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1186\/1471-2350-5-9","article-title":"PAX6 gene variations associated with aniridia in South India","volume":"5","author":"Neethirajan","year":"2004","journal-title":"BMC Med. Genet."},{"key":"B55","doi-asserted-by":"publisher","first-page":"411","DOI":"10.1038\/ng1321","article-title":"Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR","volume":"36","author":"Ng","year":"2004","journal-title":"Nat. Genet."},{"key":"B56","doi-asserted-by":"publisher","first-page":"14","DOI":"10.1186\/s12863-017-0479-5","article-title":"Opportunities and challenges of whole-genome and -exome sequencing","volume":"18","author":"Petersen","year":"2017","journal-title":"BMC Genet."},{"key":"B57","doi-asserted-by":"publisher","first-page":"134","DOI":"10.1016\/j.tibs.2012.01.002","article-title":"Inositol 5-phosphatases: insights from the Lowe syndrome protein OCRL","volume":"37","author":"Pirruccello","year":"2012","journal-title":"Trends Biochem. Sci."},{"key":"B58","doi-asserted-by":"publisher","first-page":"691","DOI":"10.1001\/jamaophthalmol.2021.0385","article-title":"Genetic analysis in a Swiss cohort of bilateral congenital cataract","volume":"139","author":"Rechsteiner","year":"2021","journal-title":"JAMA Ophthalmol."},{"key":"B59","doi-asserted-by":"publisher","first-page":"300","DOI":"10.1016\/j.survophthal.2004.02.013","article-title":"Molecular genetic basis of inherited cataract and associated phenotypes","volume":"49","author":"Reddy","year":"2004","journal-title":"Surv. Ophthalmol."},{"key":"B60","doi-asserted-by":"publisher","first-page":"D886","DOI":"10.1093\/nar\/gky1016","article-title":"CADD: predicting the deleteriousness of variants throughout the human genome","volume":"47","author":"Rentzsch","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"B61","doi-asserted-by":"publisher","first-page":"e118","DOI":"10.1093\/nar\/gkr407","article-title":"Predicting the functional impact of protein mutations: application to cancer genomics","volume":"39","author":"Reva","year":"2011","journal-title":"Nucleic Acids Res."},{"key":"B62","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1038\/nmeth0810-575","article-title":"MutationTaster evaluates disease-causing potential of sequence alterations","volume":"7","author":"Schwarz","year":"2010","journal-title":"Nat. Methods"},{"key":"B63","doi-asserted-by":"publisher","first-page":"1293","DOI":"10.1515\/hsz-2015-0180","article-title":"The role of the Lowe syndrome protein OCRL in the endocytic pathway","volume":"396","author":"Sharma","year":"2015","journal-title":"Biol. Chem."},{"key":"B64","doi-asserted-by":"publisher","first-page":"785","DOI":"10.3390\/genes15060785","article-title":"Through the cat-map gateway: a brief history of cataract genetics","volume":"15","author":"Shiels","year":"2024","journal-title":"Genes (Basel)"},{"key":"B65","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1136\/jmg.36.5.353","article-title":"Clinical and molecular genetics of Stickler syndrome","volume":"36","author":"Snead","year":"1999","journal-title":"J. Med. Genet."},{"key":"B66","doi-asserted-by":"publisher","first-page":"1837","DOI":"10.1172\/JCI38277","article-title":"Functions of the intermediate filament cytoskeleton in the eye lens","volume":"119","author":"Song","year":"2009","journal-title":"J. Clin. Invest"},{"key":"B67","doi-asserted-by":"publisher","first-page":"e0119296","DOI":"10.1371\/journal.pone.0119296","article-title":"A novel nonsense mutation in the MIP gene linked to congenital posterior polar cataracts in a Chinese family","volume":"10","author":"Song","year":"2015","journal-title":"PLoS One"},{"key":"B68","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1016\/s0092-8674(01)00326-9","article-title":"Specificity determinants in phosphoinositide dephosphorylation: crystal structure of an archetypal inositol polyphosphate 5-phosphatase","volume":"105","author":"Tsujishita","year":"2001","journal-title":"Cell"},{"key":"B69","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1186\/1471-2156-6-27","article-title":"PAX6 mutations: genotype-phenotype correlations","volume":"6","author":"Tzoulaki","year":"2005","journal-title":"BMC Genet."},{"key":"B70","doi-asserted-by":"publisher","first-page":"e70336","DOI":"10.1371\/journal.pone.0070336","article-title":"Structural integrity of the Greek key motif in \u03b2\u03b3-crystallins is vital for central eye lens transparency","volume":"8","author":"Vendra","year":"2013","journal-title":"PLoS One"},{"key":"B71","doi-asserted-by":"publisher","first-page":"343","DOI":"10.4103\/ijo.IJO_1226_22","article-title":"Genetic associations in CHAT and COL11A1 with primary angle-closure glaucoma susceptibility: a systematic review and meta-analysis","volume":"71","author":"Wang","year":"2023","journal-title":"Indian J. Ophthalmol."},{"key":"B72","doi-asserted-by":"publisher","first-page":"1189","DOI":"10.1093\/bioinformatics\/btp033","article-title":"Jalview Version 2--a multiple sequence alignment editor and analysis workbench","volume":"25","author":"Waterhouse","year":"2009","journal-title":"Bioinformatics"},{"key":"B73","doi-asserted-by":"publisher","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":"B74","doi-asserted-by":"publisher","first-page":"28564","DOI":"10.1038\/srep28564","article-title":"Prevalence and epidemiological characteristics of congenital cataract: a systematic review and meta-analysis","volume":"6","author":"Wu","year":"2016","journal-title":"Sci. Rep."},{"key":"B75","doi-asserted-by":"publisher","first-page":"e1617","DOI":"10.1002\/mgg3.1617","article-title":"Identification and characterization of six \u03b2-crystallin gene mutations associated with congenital cataract in Chinese families","volume":"9","author":"Yu","year":"2021","journal-title":"Mol. Genet. Genomic Med."},{"key":"B76","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1093\/ndt\/gfw350","article-title":"Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort","volume":"33","author":"Zaniew","year":"2018","journal-title":"Nephrol. Dial. Transpl."},{"key":"B78","doi-asserted-by":"publisher","first-page":"1219","DOI":"10.1038\/s41598-017-01182-9","article-title":"Targeted exome sequencing of congenital cataracts related genes: broadening the mutation spectrum and genotype-phenotype correlations in 27 Chinese Han families","volume":"7","author":"Zhai","year":"2017","journal-title":"Sci. Rep."},{"key":"B79","first-page":"2911","article-title":"Mutational screening of 10 genes in Chinese patients with microphthalmia and\/or coloboma","volume":"15","author":"Zhang","year":"2009","journal-title":"Mol. Vis."},{"key":"B80","first-page":"548","article-title":"Large novel deletions detected in Chinese families with aniridia: correlation between genotype and phenotype","volume":"17","author":"Zhang","year":"2011","journal-title":"Mol. Vis."},{"key":"B81","doi-asserted-by":"publisher","first-page":"686","DOI":"10.1038\/s41433-018-0277-y","article-title":"Unique presentation of congenital cataract concurrent with microcornea, microphthalmia plus posterior capsule defect in monozygotic twins caused by a novel GJA8 mutation","volume":"33","author":"Zhang","year":"","journal-title":"Eye (Lond)."},{"key":"B82","doi-asserted-by":"publisher","first-page":"119","DOI":"10.1007\/s11427-018-9374-2","article-title":"A novel deletion mutation, c.1296delT in the BCOR gene, is associated with oculo-facio-cardio-dental syndrome","volume":"62","author":"Zhang","year":"","journal-title":"Sci. China Life Sci."},{"key":"B83","doi-asserted-by":"publisher","first-page":"e115406","DOI":"10.1371\/journal.pone.0115406","article-title":"A novel GJA8 mutation (p.V44A) causing autosomal dominant congenital cataract","volume":"9","author":"Zhu","year":"2014","journal-title":"PLoS One"},{"key":"B84","first-page":"427","article-title":"Mutation screening of crystallin genes in Chinese families with congenital cataracts","volume":"25","author":"Zhuang","year":"2019","journal-title":"Mol. Vis."}],"container-title":["Frontiers in Genetics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2026.1744173\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T01:59:49Z","timestamp":1772071189000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2026.1744173\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2,26]]},"references-count":84,"alternative-id":["10.3389\/fgene.2026.1744173"],"URL":"https:\/\/doi.org\/10.3389\/fgene.2026.1744173","relation":{},"ISSN":["1664-8021"],"issn-type":[{"value":"1664-8021","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,2,26]]},"article-number":"1744173"}}