Blepharophimosis Ptosis Epicanthus Inversus Syndrome With Congenital Hypothyroidism and Brachydactyly in a 7-Year-Old Girl

Zhou, Lu; Wang, Tailing; Wang, Jiaqi

doi:10.1097/iop.0000000000000708

Cited by 2 publications

(2 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“… 24 , 25 Notably, a recent case study documented the occurrence of brachydactyly in a 7-year-old girl with BPES. Genetic analysis confirmed the absence of FOXL2 coding region mutations in this patient, 26 aligning with our WES data. These findings suggest a strong correlation between the development of the eyelid and the finger.…”

Section: Discussionsupporting

confidence: 88%

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

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionsupporting

confidence: 88%

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

View full text Add to dashboard Cite

show abstract

“…24 The presence of other loci causing the syndrome also has been proposed, although a clear association is still lacking. 17,25,26 We performed molecular screening of FOXL2 in 16 patients to analyze specifically the LG phenotype. Thirteen patients (81%) showed pathogenic genetic changes, 4 of them already described by other authors [27][28][29][30] and the remaining 4 being novel mutations.…”

Section: Discussionmentioning

confidence: 99%

Lacrimal Gland Involvement in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome

et al. 2017

View full text Add to dashboard Cite

Purpose: To describe the involvement of the lacrimal gland (LG) in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).Design: Observational, cross-sectional study. Participants: Twenty-one patients with BPES (10 female, 11 male) aged on average 15 years (range, 2e39 years), from 3 Brazilian medical centers and 1 Portuguese medical center.Methods: Patients had their ocular surface evaluated with slit-lamp biomicroscopy, and tear production quantified with the Schirmer test I. The LG volumes were measured on computed tomography (CT) scans in the BPES sample and in a group of age-matched subjects imaged for nonorbital diseases. Sixteen patients were screened for mutations in the FOXL2 gene.Main Outcome Measures: Lacrimal meniscus height, Schirmer test I, presence of superficial punctate keratopathy (SPK), LG volume, and molecular analysis of the FOXL2 gene.Results: Absence of LG was detected bilaterally in 9 patients (42.8%) and unilaterally in 2 patients (9.5%). When considering only patients with measurable LG, the median volume was 0.22 cm 3 in the right eye (range, 0.06e0.36 cm 3 ) and 0.24 cm 3 in the left eye (range, 0.08e0.34 cm 3 ). These values were significantly lower than those for the age-matched controls (median ¼ 0.54 right eye and 0.53 left eye; P < 0.05). There was a significant association between deficiency of tear production and LG volume reduction and agenesis. Molecular analysis of the FOXL2 gene revealed the presence of 8 distinct mutations, 4 of them novel ones. A significant reduction of LG size or agenesis was associated with mutations affecting protein size (due to underlying changes in the stop codon location) or the DNA-binding forkhead domain (Fisher exact test, P ¼ 0.021). In 3 probands, the underlying genetic defect was not found.Conclusions: This is the first study reporting LG volumes in BPES, describing a significant number of patients with LG agenesis. The association between alacrima and BPES is not incidental, and a thorough evaluation of tear production is recommended especially if ptosis surgery is planned. Ophthalmology 2017;124:399-406 ª

show abstract

Blepharophimosis Ptosis Epicanthus Inversus Syndrome With Congenital Hypothyroidism and Brachydactyly in a 7-Year-Old Girl

Cited by 2 publications

References 12 publications

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

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

Lacrimal Gland Involvement in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome

Contact Info

Product

Resources

About