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Eighty\u2010four distinct variants distributed among 43 different genes, including 42 previously reported variants and 42 novel variants, were detected, and 49 gene variants were causally associated with patient phenotypes; 27.37% of variants (23\/84) were commonly detected in <jats:italic>PAX6<\/jats:italic>, <jats:italic>GJA8<\/jats:italic> and <jats:italic>CRYGD<\/jats:italic>, and the three genes covered 33.06% of cases (41\/124) with molecular diagnosis. The majority of genes were classified as genes involved in nonsyndromic congenital cataracts (19\/43, 44.19%) and were responsible for 56.45% of cases (70\/124). The majority of functional and nucleotide changes were missense variants (53\/84, 63.10%) and substitution variants (74\/84, 88.10%), respectively. Nine de novo variants were identified.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study provides a reference for individualized genetic counseling and further extends the mutational spectrum of congenital cataracts.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2196","type":"journal-article","created":{"date-parts":[[2023,6,20]],"date-time":"2023-06-20T07:43:58Z","timestamp":1687247038000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Mutational spectrum in a Chinese cohort with congenital cataracts"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2399-3386","authenticated-orcid":false,"given":"Hong\u2010Li","family":"Liu","sequence":"first","affiliation":[{"name":"Eye Institute, Eye and ENT Hospital, College of Medicine Fudan University  Shanghai China"},{"name":"Shanghai Key Laboratory of Visual Impairment and Restoration Science and Technology Commission of Shanghai Municipality  Shanghai China"},{"name":"Key Laboratory of Myopia (Fudan University) Chinese Academy of Medical Sciences, National Health Commission  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0429-0282","authenticated-orcid":false,"given":"Dao\u2010Wei","family":"Zhang","sequence":"additional","affiliation":[{"name":"Eye Institute, Eye and ENT Hospital, College of Medicine Fudan University  Shanghai China"},{"name":"Shanghai Key Laboratory of Visual Impairment and Restoration Science and Technology Commission of Shanghai Municipality  Shanghai China"},{"name":"Key Laboratory of Myopia (Fudan University) Chinese Academy of Medical Sciences, National Health Commission  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fang\u2010Yuan","family":"Hu","sequence":"additional","affiliation":[{"name":"Eye Institute, Eye and ENT Hospital, College of Medicine Fudan University  Shanghai China"},{"name":"Shanghai Key Laboratory of Visual Impairment and Restoration Science and Technology Commission of Shanghai Municipality  Shanghai China"},{"name":"Key Laboratory of Myopia (Fudan University) Chinese Academy of Medical Sciences, National Health Commission  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ping","family":"Xu","sequence":"additional","affiliation":[{"name":"Eye Institute, Eye and ENT Hospital, College of Medicine Fudan University  Shanghai China"},{"name":"Shanghai Key Laboratory of Visual Impairment and Restoration Science and Technology Commission of Shanghai Municipality  Shanghai China"},{"name":"Key Laboratory of Myopia (Fudan University) Chinese Academy of Medical Sciences, National Health Commission  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheng\u2010Hai","family":"Zhang","sequence":"additional","affiliation":[{"name":"Eye Institute, Eye and ENT Hospital, College of Medicine Fudan University  Shanghai China"},{"name":"Shanghai Key Laboratory of Visual Impairment and Restoration Science and Technology Commission of Shanghai Municipality  Shanghai China"},{"name":"Key Laboratory of Myopia (Fudan University) Chinese Academy of Medical Sciences, National Health Commission  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ji\u2010Hong","family":"Wu","sequence":"additional","affiliation":[{"name":"Eye Institute, Eye and ENT Hospital, College of Medicine Fudan University  Shanghai China"},{"name":"Shanghai Key Laboratory of Visual Impairment and Restoration Science and Technology Commission of Shanghai Municipality  Shanghai China"},{"name":"Key Laboratory of Myopia (Fudan University) Chinese Academy of Medical Sciences, National Health Commission  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,6,20]]},"reference":[{"issue":"1","key":"e_1_2_11_2_1","first-page":"S1","article-title":"Elimination of cataract blindness: A global perspective entering the new millenium","volume":"45","author":"Apple D. 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