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Before sanger sequencing, variants of <jats:italic>LRP5<\/jats:italic>, <jats:italic>NDP<\/jats:italic>, <jats:italic>FZD4<\/jats:italic>, <jats:italic>TSPAN12<\/jats:italic>, <jats:italic>ZNF408<\/jats:italic>, <jats:italic>KIF11<\/jats:italic>, <jats:italic>RCBTB1<\/jats:italic>, <jats:italic>JAG1<\/jats:italic>, and <jats:italic>CTNNA1<\/jats:italic> genes were verified by a series of bioinformatics tools and genotype\u2013phenotype co\u2010segregation analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>40.54% (30\/74) of the probands were sighted to possess at least one etiological mutation of the nine FEVR\u2010causative genes. The etiological mutation detection rate was 37.74% (20\/53) in family\u2010attainable probands while 47.62% (10\/21) in sporadic cases. The diagnosis rate of patients in the early\u2010onset subgroup (\u22645\u2009years old, 45.4%) is higher than that of the children or adolescence\u2010onset subgroup (6\u201316\u2009years old, 42.1%) and the late\u2010onset subgroup (\u226517\u2009years old, 39.4%). A total of 36 etiological mutations were identified in this study, comprising 26 novel mutations and 10 reported mutations. <jats:italic>LRP5<\/jats:italic> was the most prevalent mutant gene among the 36 mutation types with a percentage of 41.67% (15\/36). Followed by <jats:italic>FZD4<\/jats:italic> (10\/36, 27.78%), <jats:italic>TSPAN12<\/jats:italic> (5\/36, 13.89%), <jats:italic>NDP<\/jats:italic> (4\/36, 11.11%), <jats:italic>KIF11<\/jats:italic> (1\/36, 2.78%), and <jats:italic>RCBTB1<\/jats:italic> (1\/36, 2.78%). Among these mutations, 63.89% (23\/36) were missense mutations, 25.00% (9\/36) were frameshift mutations, 5.56% (2\/36) were splicing mutations, 5.56% (2\/36) were nonsense mutations. Moreover, the clinical pathogenicity of these variants was defined according to American College of Medical Genetics (ACMG) and genomics guidelines: 41.67% (15\/36) were likely pathogenic variants, 27.78% (10\/36) pathogenic variants, 30.55% (11\/36) variants of uncertain significance. No etiological mutations discovered in the <jats:italic>ZNF408<\/jats:italic>, <jats:italic>JAG1,<\/jats:italic> and <jats:italic>CTNNA1<\/jats:italic> genes in this FEVR cohort.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We systematically screened nine FEVR disease\u2010associated genes in a cohort of 74 Chinese probands with FEVR disease. With a detection rate of 40.54%, 36 etiological mutations of six genes were authenticated in 30 probands, including 26 novel mutations and 10 reported mutations. The most prevalent mutated gene is <jats:italic>LRP5<\/jats:italic>, followed by <jats:italic>FZD4<\/jats:italic>, <jats:italic>TSPAN12<\/jats:italic>, <jats:italic>NDP<\/jats:italic>, <jats:italic>KIF11<\/jats:italic>, and <jats:italic>RCBTB1<\/jats:italic>. In total, a de novo mutation was confirmed. Our study significantly clarified the mutation spectrum of variants bounded up to FEVR disease.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2021","type":"journal-article","created":{"date-parts":[[2022,7,25]],"date-time":"2022-07-25T11:15:30Z","timestamp":1658747730000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Mutation spectrum in a cohort with familial exudative vitreoretinopathy"],"prefix":"10.1002","volume":"10","author":[{"given":"Ning","family":"Qu","sequence":"first","affiliation":[{"name":"Guangdong and Shenzhen Key Laboratory of Reproductive Medicine and Genetics, The Center of Reproductive Medicine Peking University Shenzhen Hospital  Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5993-7912","authenticated-orcid":false,"given":"Wei","family":"Li","sequence":"additional","affiliation":[{"name":"College of Life Sciences University of Chinese Academy of Sciences  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dong\u2010Ming","family":"Han","sequence":"additional","affiliation":[{"name":"College of Life Sciences University of Chinese Academy of Sciences  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jia\u2010Yu","family":"Gao","sequence":"additional","affiliation":[{"name":"College of Life Sciences University of Chinese Academy of Sciences  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zheng\u2010Tao","family":"Yang","sequence":"additional","affiliation":[{"name":"College of Life Sciences University of Chinese Academy of Sciences  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Laizhou City People's Hospital  Yantai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tian\u2010Bin","family":"Liu","sequence":"additional","affiliation":[{"name":"College of Life Sciences University of Chinese Academy of Sciences  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan\u2010Xian","family":"Chen","sequence":"additional","affiliation":[{"name":"Guangdong and Shenzhen Key Laboratory of Reproductive Medicine and Genetics, The Center of Reproductive Medicine Peking University Shenzhen Hospital  Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao\u2010Sen","family":"Jiang","sequence":"additional","affiliation":[{"name":"College of Life Sciences University of Chinese Academy of Sciences  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liang","family":"Zhou","sequence":"additional","affiliation":[{"name":"Guangdong and Shenzhen Key Laboratory of Reproductive Medicine and Genetics, The Center of Reproductive Medicine Peking University Shenzhen Hospital  Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ji\u2010Hong","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Eye &amp; 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