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This study investigated the genetic and phenotypic characteristics of\n                    <jats:italic>FOXL2<\/jats:italic>\n                    \u2010associated BPES and their genotype\u2013phenotype correlations.\n                    <jats:italic>FOXL2<\/jats:italic>\n                    variants were identified by in\u2010house next\u2010generation sequencing and compared with public databases. Clinical features were also summarized. Eleven\n                    <jats:italic>FOXL2<\/jats:italic>\n                    variants, including four novel, were detected in 11 families from our cohort. Based on literature, 273\n                    <jats:italic>FOXL2<\/jats:italic>\n                    pathogenic\/likely pathogenic variants were reviewed in 650 patients from 548 families. Nearly half (47.6%, 130\/273) of the variants were truncation. The most frequent (24.0%, 132\/549) variant was p.A225_A234dup. In the polyalanine tract, variants leading to the deletion of 1\u201310 or expansion\/insertion of 2 alanine residues were likely benign, whereas variants causing the expansion\/insertion of 10\u201315 alanine residues were pathogenic. The proportion of truncation variants was significantly higher in patients with BPES\u2010I (73.8%, 48\/65) than in those with BPES\u2010II (19.6%, 19\/97). In conclusion, the pathogenicity of in\u2010frame variants within the polyalanine tract was associated with the number of polyalanine residues. Truncation variants were frequently linked to the severe phenotype (BPES\u2010I), highlighting their potential value in clinical diagnosis and patient management, particularly for preventing or treating POI.\n                  <\/jats:p>","DOI":"10.1002\/ajmga.70058","type":"journal-article","created":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T07:45:50Z","timestamp":1768895150000},"page":"1204-1214","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Genetic and Clinical Features of\n                    <i>FOXL2<\/i>\n                    \u2010Associated Blepharophimosis\u2013Ptosis\u2013Epicanthus Inversus Syndrome Based on 11 Chinese Families and Literature Review"],"prefix":"10.1002","volume":"200","author":[{"given":"Yijun","family":"Dong","sequence":"first","affiliation":[{"name":"State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat\u2010sen University Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xueshan","family":"Xiao","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat\u2010sen University Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shiqiang","family":"Li","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat\u2010sen University Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoyun","family":"Jia","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat\u2010sen University Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenmin","family":"Sun","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat\u2010sen University Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7508-848X","authenticated-orcid":false,"given":"Qingjiong","family":"Zhang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat\u2010sen University Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6735-4952","authenticated-orcid":false,"given":"Zhen","family":"Yi","sequence":"additional","affiliation":[{"name":"State Key Laboratory of 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