Bilateral cataract in a child with blepharophimosis-ptosis-epicanthus inversus syndrome: A surgical challenge

Nabih, O; Arab, L; Maaloum, L. El; Allali, B.; Kettani, A. El

doi:10.1016/j.ijscr.2022.106845

Cited by 2 publications

(4 citation statements)

References 16 publications

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“…Moreover, the proband was diagnosed with congenital cataracts. Interestingly, BPES accompanied by congenital cataracts or PM has rarely been reported, and there is a lack of molecular genetic studies of BPES associated with anisometropia [ 9 , 10 ].…”

Section: Introductionmentioning

confidence: 99%

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

Lin,

Chen,

Yang

et al. 2023

BMC Ophthalmol

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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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Section: Introductionmentioning

confidence: 99%

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

Lin,

Chen,

Yang

et al. 2023

BMC Ophthalmol

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“…If left untreated, these characteristics are correlated with a high prevalence of amblyopia 3 . The diagnosis of BPES can be categorized into 2 types: type I BPES exhibits classic facial features and is linked to premature ovarian failure, while type II solely manifests with classic eyelid malformation 4–6 . It is noteworthy that in the majority of cases, both types of BPES are caused by mutations in the coding region of FOXL2 (OMIM #605597), a gene responsible for encoding a forkhead transcription factor 7 …”

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confidence: 99%

“…While several studies have investigated the use of water as a coupling medium, this approach has its limitations, notably the complexity it introduces into the surgical preparation process. 5,6 Despite these hurdles, our research has discovered that a solid gel can serve as an effective coupling medium for scanning purposes. This gel pad facilitates the transmission of ultrasound frequencies from the handpiece to the target tissue, enabling unrestricted movement during treatment.…”

mentioning

confidence: 99%

“…3 The diagnosis of BPES can be categorized into 2 types: type I BPES exhibits classic facial features and is linked to premature ovarian failure, while type II solely manifests with classic eyelid malformation. [4][5][6] It is noteworthy that in the majority of cases, both types of BPES are caused by mutations in the coding region of FOXL2 (OMIM #605597), a gene responsible for encoding a forkhead transcription factor. 7 FOXL2, located on chromosome 3q23, is a single exon spanning 2.7 kb and encodes 376 amino acids.…”

mentioning

confidence: 99%

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Deletion of cis-regulatory Element in FOXL2 Promoter in a Chinese Family of Type II Blepharophimosis-ptosis-epicanthus Inversus Syndrome with Polydactyly

Shen,

Zhao,

et al. 2023

Journal of Craniofacial Surgery

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Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a relatively uncommon autosomal-dominant genetic disorder, primarily attributed to mutations in the forkhead box L2 (FOXL2) gene. Albeit the involvement of protein-coding regions of FOXL2 has been observed in the majority of BPES cases, whether deficiencies in regulatory elements lead to the pathogenesis remains poorly understood. Herein, an autosomal-dominant BPES type II family was included. Peripheral venous blood has been collected, and genomic DNA has been extracted from leukocytes. A whole exome sequencing analysis has been performed and analyzed (Deposited in NODE database: OER422653). The promoter region of FOXL2 was amplified using polymerase chain reaction (PCR). The luciferase reporter assay was performed to identify the activity of this region. In this study, we present a Chinese family diagnosed with type II BPES, characterized by the presence of small palpebral fissures, ptosis, telecanthus, and epicanthus inversus. Notably, all male individuals within the family display polydactyly. A 225-bp deletion in the 556-bp 5′-upstream to transcription start site of FOXL2, decorated by multiple histone modifications, was identified in affected members of the family. This deletion significantly decreased FOXL2 promoter activity, as measured by the luciferase assay. Conclusively, a novel 255-bp-deletion of the FOXL2 promoter was identified in Chinese families with BPES. Our results expand the spectrum of known FOXL2 mutations and provide additional insight into the genotype-phenotype relationships of the BPES pathogenesis. In addition, this study indicates the important role of genetic screening of cis-regulatory elements in testing heritable diseases.

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Bilateral cataract in a child with blepharophimosis-ptosis-epicanthus inversus syndrome: A surgical challenge

Cited by 2 publications

References 16 publications

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

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

Deletion of cis-regulatory Element in FOXL2 Promoter in a Chinese Family of Type II Blepharophimosis-ptosis-epicanthus Inversus Syndrome with Polydactyly

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