Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family
Abstract Introduction Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a rare genetic disease with diverse ocular malformations. This study aimed to investigate the disease-causing gene in members of a BPES pedigree presenting with the rare features of anisometropia, unilateral p...
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| Format: | Article |
| Language: | English |
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BMC
2023-11-01
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| Series: | BMC Ophthalmology |
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| Online Access: | https://doi.org/10.1186/s12886-023-03189-5 |
| _version_ | 1797630394127876096 |
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| author | Zhi-Bo Lin Zhen-Ji Chen Hui Yang Xing-Ru Ding Jin Li An-Peng Pan Hai-Sen Sun A.-Yong Yu Shi-Hao Chen |
| author_facet | Zhi-Bo Lin Zhen-Ji Chen Hui Yang Xing-Ru Ding Jin Li An-Peng Pan Hai-Sen Sun A.-Yong Yu Shi-Hao Chen |
| author_sort | Zhi-Bo Lin |
| collection | DOAJ |
| description | Abstract Introduction Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a rare genetic disease with diverse ocular malformations. This study aimed to investigate the disease-causing gene in members of a BPES pedigree presenting with the rare features of anisometropia, unilateral pathologic myopia (PM), and congenital cataracts. Methods The related BPES patients underwent a comprehensive ocular examination. Next, whole-exome sequencing (WES) was performed to screen for the disease-causing genetic variants. A step-wise variant filtering was performed to select candidate variants combined with the annotation of the variant's pathogenicity, which was assessed using several bioinformatic approaches. Co-segregation analysis and Sanger sequencing were then conducted to validate the candidate variant. Results The variant c.672_701dup in FOXL2 was identified to be the disease-causing variant in this rare BPES family. Combined with clinical manifestations, the two affected individuals were diagnosed with type II BPES. Conclusion This study uncovered the variant c.672_701dup in FOXL2 as a disease causal variant in a rare-presenting BPES family with anisometropia, unilateral pathogenic myopia, and/or congenital cataracts, thus expanding the phenotypic spectrum of FOXL2. |
| first_indexed | 2024-03-11T11:06:42Z |
| format | Article |
| id | doaj.art-929e509171d246588d46e2ca62d3bc27 |
| institution | Directory Open Access Journal |
| issn | 1471-2415 |
| language | English |
| last_indexed | 2024-03-11T11:06:42Z |
| publishDate | 2023-11-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Ophthalmology |
| spelling | doaj.art-929e509171d246588d46e2ca62d3bc272023-11-12T12:10:39ZengBMCBMC Ophthalmology1471-24152023-11-012311710.1186/s12886-023-03189-5Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome familyZhi-Bo Lin0Zhen-Ji Chen1Hui Yang2Xing-Ru Ding3Jin Li4An-Peng Pan5Hai-Sen Sun6A.-Yong Yu7Shi-Hao Chen8National Clinical Research Center for Ocular Diseases, Eye Hospital, Wenzhou Medical UniversityOujiang Laboratory, Zhejiang Lab for Regenerative Medicine, Vision and Brain HealthDepartment of Ophthalmology, The Second Affiliated Hospital and Yuying Children’s Hospital of Wenzhou Medical UniversityZhejiang Provincial Clinical Research Center for Pediatric Disease, The Second Affiliated Hospital of Wenzhou Medical UniversityNational Clinical Research Center for Ocular Diseases, Eye Hospital, Wenzhou Medical UniversityNational Clinical Research Center for Ocular Diseases, Eye Hospital, Wenzhou Medical UniversityNational Clinical Research Center for Ocular Diseases, Eye Hospital, Wenzhou Medical UniversityNational Clinical Research Center for Ocular Diseases, Eye Hospital, Wenzhou Medical UniversityNational Clinical Research Center for Ocular Diseases, Eye Hospital, Wenzhou Medical UniversityAbstract Introduction Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a rare genetic disease with diverse ocular malformations. This study aimed to investigate the disease-causing gene in members of a BPES pedigree presenting with the rare features of anisometropia, unilateral pathologic myopia (PM), and congenital cataracts. Methods The related BPES patients underwent a comprehensive ocular examination. Next, whole-exome sequencing (WES) was performed to screen for the disease-causing genetic variants. A step-wise variant filtering was performed to select candidate variants combined with the annotation of the variant's pathogenicity, which was assessed using several bioinformatic approaches. Co-segregation analysis and Sanger sequencing were then conducted to validate the candidate variant. Results The variant c.672_701dup in FOXL2 was identified to be the disease-causing variant in this rare BPES family. Combined with clinical manifestations, the two affected individuals were diagnosed with type II BPES. Conclusion This study uncovered the variant c.672_701dup in FOXL2 as a disease causal variant in a rare-presenting BPES family with anisometropia, unilateral pathogenic myopia, and/or congenital cataracts, thus expanding the phenotypic spectrum of FOXL2.https://doi.org/10.1186/s12886-023-03189-5FOXL2Whole-exome sequencingBPESAnisometropiaCongenital cataracts |
| spellingShingle | Zhi-Bo Lin Zhen-Ji Chen Hui Yang Xing-Ru Ding Jin Li An-Peng Pan Hai-Sen Sun A.-Yong Yu Shi-Hao Chen Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family BMC Ophthalmology FOXL2 Whole-exome sequencing BPES Anisometropia Congenital cataracts |
| title | Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family |
| title_full | Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family |
| title_fullStr | Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family |
| title_full_unstemmed | Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family |
| title_short | Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family |
| title_sort | expanded phenotypic spectrum of foxl2 variant c 672 701dup revealed by whole exome sequencing in a rare blepharophimosis ptosis and epicanthus inversus syndrome family |
| topic | FOXL2 Whole-exome sequencing BPES Anisometropia Congenital cataracts |
| url | https://doi.org/10.1186/s12886-023-03189-5 |
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