{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T11:24:25Z","timestamp":1787138665947,"version":"build-2736575974"},"reference-count":18,"publisher":"SAGE Publications","issue":"12","license":[{"start":{"date-parts":[[2025,11,23]],"date-time":"2025-11-23T00:00:00Z","timestamp":1763856000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"name":"National Key Research and Development Program of China Grant","award":["2023YFC3604101"],"award-info":[{"award-number":["2023YFC3604101"]}]},{"name":"Central Government to Guide Local Scientific and Technological Development","award":["2022YRZ0102"],"award-info":[{"award-number":["2022YRZ0102"]}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Genetic Testing and Molecular Biomarkers"],"published-print":{"date-parts":[[2025,12,1]]},"abstract":"\n Background:<\/jats:title>\n \n Familial exudative vitreoretinopathy (FEVR) is a rare inherited ocular disorder characterized by abnormal peripheral retinal vascular development.\n KIF11<\/jats:italic>\n variants are known to cause autosomal dominant FEVR, but novel pathogenic variants remain to be identified.\n <\/jats:p>\n <\/jats:sec>\n \n Objective:<\/jats:title>\n This study aimed to identify a novel causative variant of FEVR and provide evidence for genetic counseling.<\/jats:p>\n <\/jats:sec>\n \n Methods:<\/jats:title>\n Whole-exome sequencing was performed on members of a Chinese family with FEVR. Rare variants with a gnomAD allele frequency <0.1% in East Asian and general populations were prioritized. Sanger sequencing was used for validation, and bioinformatic analyses (including Combined Annotation Dependent Depletion [CADD] score and cross-species conservation analysis) were conducted to assess pathogenicity.<\/jats:p>\n <\/jats:sec>\n \n Results:<\/jats:title>\n \n A novel heterozygous frameshift variant\n KIF11<\/jats:italic>\n c.1239_1240del (p.V414Sfs*9) was identified in the proband, his brother, and his mother. This variant, absent from public databases (1000 Genomes, ExAC, gnomAD), had a CADD score of 26.9 and affected a highly conserved residue, suggesting disruptive effects on protein structure. The proband\u2019s mother showed macular involvement.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions:<\/jats:title>\n \n The novel\n KIF11<\/jats:italic>\n frameshift variant (c.1239_1240del p.V414Sfs*9) identified in a Chinese family expands the mutation spectrum of autosomal dominant FEVR, with macular involvement aiding clinical prognostic assessment.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1177\/19450265251401002","type":"journal-article","created":{"date-parts":[[2025,11,24]],"date-time":"2025-11-24T06:40:32Z","timestamp":1763966432000},"page":"337-341","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["A Novel Frameshift Variant in\n KIF11<\/i>\n Causes Autosomal Dominant Familial Exudative Vitreoretinopathy in a Chinese Family"],"prefix":"10.1177","volume":"29","author":[{"given":"Jianping","family":"Zhang","sequence":"first","affiliation":[{"name":"Liuzhou Hospital of Guangzhou Women and Children\u2019s Medical Center, Guangxi, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-2714-2903","authenticated-orcid":false,"given":"Yijia","family":"Zhao","sequence":"additional","affiliation":[{"name":"National Research Institute for Family Planning Center for Genetics, Beijing, China."},{"name":"Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yueyuan","family":"Lan","sequence":"additional","affiliation":[{"name":"Liuzhou Maternity and Child Healthcare Hospital, Guangxi, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenhui","family":"Liu","sequence":"additional","affiliation":[{"name":"Liuzhou Hospital of Guangzhou Women and Children\u2019s Medical Center, Guangxi, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pei","family":"Zhong","sequence":"additional","affiliation":[{"name":"Liuzhou Maternity and Child Healthcare Hospital, Guangxi, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Binbin","family":"Wang","sequence":"additional","affiliation":[{"name":"National Research Institute for Family Planning Center for Genetics, Beijing, China."},{"name":"Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China."},{"name":"NHC Key Laboratory of Reproductive Health Engineering Technology Research (NRIFP), Beijing, 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