{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T16:40:08Z","timestamp":1791045608228,"version":"4.1.0"},"reference-count":32,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,2,17]],"date-time":"2021-02-17T00:00:00Z","timestamp":1613520000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81700816"],"award-info":[{"award-number":["81700816"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81870641"],"award-info":[{"award-number":["81870641"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81900840"],"award-info":[{"award-number":["81900840"]}],"id":[{"id":"10.13039\/501100001809","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":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>This study aims to identify the underlying genetic defects of \u03b2\u2010crystallin (<jats:italic>CRYB<\/jats:italic>) genes responsible for congenital cataracts in a group of Chinese families.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Detailed family history and clinical data of six Chinese families with autosomal dominant congenital cataracts were recorded. Targeted exome sequencing was applied to detect the underlying genetic defects for the families. Generated variants were confirmed by PCR and sanger sequencing. Afterward, bioinformatic analysis through several computational predictive programs was performed to assess impacts of mutations on protein structure and function.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 53 participants (23 affected and 30 unaffected) from six unrelated Chinese families were recruited. Cataract phenotypes covered nuclear, total, posterior polar, pulverulent, snowflake\u2010like, and zonular. Through targeted exome sequencing, six mutations in four \u03b2\u2010crystallin genes were revealed which included five missense mutations <jats:italic>CRYBB1<\/jats:italic> p.Q70P, <jats:italic>CRYBB2<\/jats:italic> p.E23Q, <jats:italic>CRYBB2<\/jats:italic> p.A49V, <jats:italic>CRYBB2<\/jats:italic> R188C, <jats:italic>CRYBA4<\/jats:italic> p.M14K and one splice mutation <jats:italic>CRYBB3<\/jats:italic> c.75+1 G&gt;A. In silico results predicted pathogenic for all four missense variants except variant <jats:italic>CRYBB2<\/jats:italic>\u2010p.A49V yielded results as tolerant. The <jats:italic>CRYBB3<\/jats:italic> c.75+1 G&gt;A splice site mutation was predicted to be deleterious by leading to a broken splice site, a premature stop codon, and subsequently resulting in a short peptide of 113 amino acids, which may affect protein features.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The obtained results expanded mutational and phenotype spectrum of \u03b2\u2010crystallin genes and offer clues for pathogenesis of congenital cataracts. The data also demonstrated that targeted exome sequencing is valuable for providing molecular diagnostic information for congenital cataract patients.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1617","type":"journal-article","created":{"date-parts":[[2021,2,20]],"date-time":"2021-02-20T09:44:59Z","timestamp":1613814299000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Identification and characterization of six \u03b2\u2010crystallin gene mutations associated with congenital cataract in Chinese families"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1424-7250","authenticated-orcid":false,"given":"Yinhui","family":"Yu","sequence":"first","affiliation":[{"name":"Department of Eye Center The Second Affiliated Hospital Zhejiang University School of Medicine Hangzhou Zhejiang Province China"},{"name":"Zhejiang Provincial Key Lab of Ophthalmology Hangzhou Zhejiang Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yue","family":"Qiao","sequence":"additional","affiliation":[{"name":"Department of Eye Center The Second Affiliated Hospital Zhejiang University School of Medicine Hangzhou Zhejiang Province China"},{"name":"Zhejiang Provincial Key Lab of Ophthalmology Hangzhou Zhejiang Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yang","family":"Ye","sequence":"additional","affiliation":[{"name":"Department of Eye Center The Second Affiliated Hospital Zhejiang University School of Medicine Hangzhou Zhejiang Province China"},{"name":"Zhejiang Provincial Key Lab of Ophthalmology Hangzhou Zhejiang Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinyu","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Eye Center The Second Affiliated Hospital Zhejiang University School of Medicine Hangzhou Zhejiang Province China"},{"name":"Zhejiang Provincial Key Lab of Ophthalmology Hangzhou Zhejiang Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6764-7365","authenticated-orcid":false,"given":"Ke","family":"Yao","sequence":"additional","affiliation":[{"name":"Department of Eye Center The Second Affiliated Hospital Zhejiang University School of Medicine Hangzhou Zhejiang Province China"},{"name":"Zhejiang Provincial Key Lab of Ophthalmology Hangzhou Zhejiang Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,2,17]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40524"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjophthalmol-2019-315282"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-012-1700-1"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0081290"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-030-28151-9_14"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2015.06.035"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/bs.pmbts.2015.04.007"},{"issue":"39","key":"e_1_2_9_9_1","first-page":"341","article-title":"Expression of transcription factors and crystallin proteins during rat lens regeneration","volume":"16","author":"Huang Y. S.","year":"2010","journal-title":"Molecular Vision"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkw010"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01136641"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1177\/1120672120914497"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.181008"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.272.4.2268"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1042\/BCJ20160247"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.exer.2019.107872"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.exer.2019.107712"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature17181"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jfo.2018.10.007"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22948"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molmed.2012.03.005"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1159\/000442495"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13238-016-0284-3"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.04-1481"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.exer.2016.06.011"},{"issue":"20","key":"e_1_2_9_26_1","first-page":"174","article-title":"Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract","volume":"18","author":"Weisschuh N.","year":"2012","journal-title":"Molecular Vision"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1186\/1479-7364-6-26"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2014.03.119"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2018.09.028"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-017-01182-9"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature15253"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijbiomac.2017.05.109"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijbiomac.2018.05.220"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1617","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1617","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1617","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T18:16:45Z","timestamp":1693333005000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1617"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,2,17]]},"references-count":32,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2021,3]]}},"alternative-id":["10.1002\/mgg3.1617"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1617","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,2,17]]},"assertion":[{"value":"2020-09-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-01-18","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-02-17","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1617"}}