Skip to content
2000
Volume 18, Issue 3
  • ISSN: 1566-5240
  • E-ISSN: 1875-5666

Abstract

Background: Blepharophimosis syndrome (BPES) is characterized by eyelid malformation with occasional premature ovarian failure. Mutations in FOXL2 underlie a fraction of BPES cases. Objective: We aimed to investigate the genetic basis of BPES in 26 Chinese families that included 78 patients. Methods: We performed ophthalmological examinations on each family member. We used Sanger sequencing to screen FOXL2 exons and their flanking sequences. We also performed bioinformatics studies, structural modeling and pathogenicity evaluations on all identified variations. Literature was reviewed and genotype-phenotype correlation analysis was performed. Results: The patients had typical manifestations of BPES. Ten mutations were identified in ten of the twenty-six families. Among these, seven were novel mutations. These included the six truncating mutations, p.Glu69*, p.Gly256Glyfs*14, p.Ala14Serfs*135, p.Pro333Profs*200, p.Pro290Leufs*70, and p.Pro157Profs*91, and one missense mutation, p.Tyr59Cys. The mutations were scattered within the gene, and no mutational hotspots were found. Genotype-phenotype correlation analysis showed that frameshift or nonsense mutations were correlated with type I BPES, while in-frame or missense mutations were associated with type II BPES. Conclusion: We report the largest BPES cohort in China thus far as well as seven novel mutations in FOXL2. The identification of novel mutations has not only expanded the mutational spectrum of the gene (which is valuable for mutation detection-based screening) but also suggests that most mutations within the Chinese population may not have been characterized yet.

Loading

Article metrics loading...

/content/journals/cmm/10.2174/1566524018666180907162619
2018-03-01
2025-09-23
Loading full text...

Full text loading...

/content/journals/cmm/10.2174/1566524018666180907162619
Loading

  • Article Type:
    Research Article
Keyword(s): Blepharophimosis syndrome; BPES; FOXL2; mutation; ophthalmology; structural modeling
This is a required field
Please enter a valid email address
Approval was a Success
Invalid data
An Error Occurred
Approval was partially successful, following selected items could not be processed due to error
Please enter a valid_number test