{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T03:21:15Z","timestamp":1783653675218,"version":"3.55.0"},"reference-count":26,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,11,17]],"date-time":"2021-11-17T00:00:00Z","timestamp":1637107200000},"content-version":"vor","delay-in-days":320,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["51573101"],"award-info":[{"award-number":["51573101"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004826","name":"Natural Science Foundation of Beijing Municipality","doi-asserted-by":"publisher","award":["7172056"],"award-info":[{"award-number":["7172056"]}],"id":[{"id":"10.13039\/501100004826","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008402","name":"Chengdu University of Traditional Chinese Medicine","doi-asserted-by":"publisher","award":["BSH2019025"],"award-info":[{"award-number":["BSH2019025"]}],"id":[{"id":"10.13039\/501100008402","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Journal of Ophthalmology"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:p>\n                    <jats:italic>Purpose<\/jats:italic>\n                    . To identify likely pathogenic variants in three families with congenital cataracts via panel\u2010based exome sequencing.\n                    <jats:italic>Methods<\/jats:italic>\n                    . A panel containing 153 genes associated with congenital cataracts was designed. Genes were selected through reference to databases including the Human Gene Mutation Database (HGMD), Online Mendelian Inheritance in Man (OMIM), Genetic Home Reference, and the latest peer\u2010reviewed publications on the genetics of hereditary cataracts. Panel\u2010based exome sequencing was performed with the Illumina HiSeq X\u2010Ten platform, and then the identified variants were confirmed with Sanger sequencing and evaluated according to the American College of Medical Genetics and Genomics (ACMG) criteria.\n                    <jats:italic>Results<\/jats:italic>\n                    . Three likely pathogenic variants were found. A novel\n                    <jats:italic>CRYBB2<\/jats:italic>\n                    : c.230G\u2009&gt;\u2009T p.G77V variant was identified in family A, a novel\n                    <jats:italic>CRYBB2<\/jats:italic>\n                    : c.230G\u2009&gt;\u2009A p.G77D variant was identified in family B, and a novel\n                    <jats:italic>CRYGD<\/jats:italic>\n                    : c.475delG p.A159Pfs\u22179 variant was identified in family C.\n                    <jats:italic>Conclusion<\/jats:italic>\n                    . Panel\u2010based exome sequencing revealed three likely pathogenic variants in three unrelated Chinese families with congenital cataracts. These data expand the genetic spectrum associated with congenital cataracts.\n                  <\/jats:p>","DOI":"10.1155\/2021\/3847409","type":"journal-article","created":{"date-parts":[[2021,11,17]],"date-time":"2021-11-17T18:35:18Z","timestamp":1637174118000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel Likely Pathogenic Variants Identified by Panel\u2010Based Exome Sequencing in Congenital Cataract Patients"],"prefix":"10.1155","volume":"2021","author":[{"given":"Doudou","family":"Chen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tao","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7031-9565","authenticated-orcid":false,"given":"Siquan","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,11,17]]},"reference":[{"key":"e_1_2_10_1_2","doi-asserted-by":"publisher","DOI":"10.1159\/000455752"},{"key":"e_1_2_10_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/s0140-6736(17)30544-5"},{"key":"e_1_2_10_3_2","doi-asserted-by":"publisher","DOI":"10.1097\/icu.0b013e32834994dc"},{"key":"e_1_2_10_4_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0184440"},{"key":"e_1_2_10_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.329"},{"key":"e_1_2_10_6_2","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2156-15-13"},{"key":"e_1_2_10_7_2","doi-asserted-by":"publisher","DOI":"10.14806\/ej.17.1.200"},{"key":"e_1_2_10_8_2","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"e_1_2_10_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/0471250953.bi1110s43"},{"key":"e_1_2_10_10_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq603"},{"key":"e_1_2_10_11_2","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2009.86"},{"key":"e_1_2_10_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_10_13_2","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2890"},{"key":"e_1_2_10_14_2","doi-asserted-by":"publisher","DOI":"10.1101\/gr.3577405"},{"key":"e_1_2_10_15_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pcbi.1001025"},{"key":"e_1_2_10_16_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.151"},{"key":"e_1_2_10_17_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_18_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2013.73"},{"key":"e_1_2_10_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijbiomac.2017.05.109"},{"key":"e_1_2_10_20_2","first-page":"750","article-title":"Nonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary cataracts","volume":"14","author":"Li F. 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