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BMC Ophthalmology
Published in: BMC Ophthalmology 1/2023

Open Access 01-12-2023 | Cataract | Research

Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family

Authors: 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

Published in: BMC Ophthalmology | Issue 1/2023

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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.
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Metadata
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
Authors
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
Publication date
01-12-2023
Publisher
BioMed Central
Keywords
Cataract
Ptosis
Published in
BMC Ophthalmology / Issue 1/2023
Electronic ISSN: 1471-2415
DOI
https://doi.org/10.1186/s12886-023-03189-5

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