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Identification of a novel FOXL2 mutation in a fourth-generation Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome

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International Journal of Ophthalmology(English edition) 2021年第4期14卷 504-509页

作者： Wei-Ning Rong Mei-Jiao Ma Wei Yang Shi-Qin Yuan Xun-Lun Sheng Department of Ophthalmology Ningxia Eye HospitalPeople’s Hospital of Ningxia Hui Autonomous Region(First Affiliated Hospital of Northwest University for Nationalities)Yinchuan 750002the Ningxia Hui Autonomous RegionChina

AIM:To characterize the genetic causes and clinical features in a four-generation Chinese family with blepharophimosisptosis-epicanthus inversus syndrome(BPES).METHODS:Thirteen patients with BPES and eight healthy family members were included in this *** participants received routine ophthalmic *** target next-generation sequencing(NGS)was performed to determine the causative mutation for this *** silico analysis was also applied to predict the pathogenesis of identified ***:All patients had severe ptosis,normal intelligence,female patients have normal *** assessments revealed a heterozygous insertion variation in FOXL2 gene,c.672_701 ins GCGGCTGCCGC CGCAGCTGCTG CAGGCGCT(***234_Gly235 lins AAAAAAAAGA),carried by 13 patient but absent in all unaffected *** silico analysis supported the pathogenic nature of this highly conserved *** mutation resulted in the insertion of 10 amino acids into the encoded polyala nine chain,which increased the number of original polyalanine chains from 14 to 24,resulting in an extended ***:A novel FOXL2 mutation c.672_701 ins GCGGCTGCCGCCGCAGCTGCTGC AGGCGCT(***234_Gly235 lins AAAAAAAAGA)was identified in a large Chinese family with *** study amplified the genotypic spectrum of FOXL2-BPES and better illustrates its genotype-phenotypecorrelations,which provided a basis for elucidating the pathogenesis of BPES and genetic counseling.

关键词： blepharophimosis-ptosis-epicanthus inversus syndrome FOXL2 mutation Chinese

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Identification and functional analyses of a novel FOXL2 pathogenic variant causing blepharophimosis, ptosis, and epicanthus inversus syndrome

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International Journal of Ophthalmology(English edition) 2023年第5期16卷 680-686页

作者： Yu-Cheng Yan Lu Zhou Jin-Cai Fan Plastic Surgery Hospital Chinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100041China

AIM: To discover the molecular pathogenic basis of the blepharophimosis, ptosis, and epicanthus inversus syndrome(BPES), and to predict the clinical subtype according to in vitro experiments, which is significant to the ***: A 3-year-old sporadic female patient with typical clinical manifestations of BPES was enrolled. The coding region of forkhead box L2(FOXL2) gene was sequenced, and the functional assays were performed in vitro by Western blotting, subcellular localization experiment, luciferase reporter assay, and quantitative realtime polymerase chain ***: A novel FOXL2 point pathogenic variant(c.274G>T) was detected, resulting in a truncated protein(p.E92*). Functional studies demonstrated that the FOXL2 pathogenic variant induced the subcellular mislocalization and the abnormal transcriptional activity on promoters of the steroidogenic acute regulatory protein(StAR or STARD1) gene and the odd-skipped related 2 transcription factor(OSR2) ***: A novel pathogenic variant is identified to expand the spectrum of the known FOXL2 mutations. The in vitro experiments provide reference data and more insights to the molecular pathogenesis of BPES. The predicted high risk of ovarian insufficiency makes it significant for the patient enrolled to have further follow-up and therapy concerning female endocrinology.

关键词： novel mutation pathogenic variant blepharophimosis-ptosis-epicanthus inversus syndrome FOXL2

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