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Genetic and Clinical Features of FOXL2-Associated Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Based on 11 Chinese Families and Literature Review.

American journal of medical genetics. Part A - 1 Jun 2026

Dong Yijun, Xiao Xueshan, Li Shiqiang, Jia Xiaoyun, Sun Wenmin, Zhang Qingjiong, Yi Zhen

Abstract excerpt

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), caused by FOXL2 variants, has been divided into two subtypes by eyelid abnormalities with (BPES-I) or without (BPES-II) primary ovarian insufficiency (POI). This study investigated the genetic and phenotypic characteristics of FOXL2-associated BPES and their genotype-phenotype correlations. FOXL2 variants were identified by in-house next-generation...

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Blepharophimosis
China
East Asian People
Forkhead Box Protein L2
Genetic Association Studies

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Skin Abnormalities

Urogenital Abnormalities

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PMID: 41555764
DOI: 10.1002/ajmga.70058

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FOXL2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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