Prise en charge du syndrome de blépharophimosis ptôsis épicanthus inversus (SBPE) dans un centre de référence en Tunisie

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal-dominant genetic disorder, and mutations in the forkhead box L2 (FOXL2) gene are one of the major genetic causes. As this study shows, there are many patients with BPES who do not have FOXL2 mutations, as the screening results in all family members were negative. Using whole-exome sequence analysis, we discovered another possible mutational cause of BPES in integrin subunit beta 5 (ITGB5). The ITGB5 mutation (c.608T>C, p.Ile203Thr) appears in the base sequence of all BPES+ patients in this family, and it appears to be a three-generation-inherited mutation. It can cause changes in base sequence and protein function, and there may be cosegregation of disease phenotypes. ITGB5 is located on the long arm of chromosome three (3q21.2) and is close to the known pathogenic gene FOXL2 (3q23). This study is the first to report ITGB5 mutations in BPES, and we speculate that it may be directly involved in the pathogenesis of BPES or indirectly through the regulation of FOXL2.

show abstract

ITGB5 mutation discovered in a Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome

Cheng

Yuan

Zhu

et al. 2021

Open Life Sciences

View full text Add to dashboard Cite

show abstract

Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES): Brief review of genetics, clinical presentation, and management

Jayasri,

Stephen

2024

Trop Ophthalmol

View full text Add to dashboard Cite

Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is a rare genetic disorder characterized primarily by four distinct features including telecanthus. BPES is an autosomal dominant disorder caused by mutations in the FOXL2 gene located on chromosome 3q23. Two types of BPES has been described, type 1 BPES with ovarian insufficiency and type 2 with only major ocular features. Various other associations including lid dysplasia, strabismus, refractive error and lacrimal duct anomalies are noted. This review article aims to provide a comprehensive overview of BPES syndrome, including its genetics, clinical manifestations, differential diagnosis, and management options.

show abstract

scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.

Contact Info

hi@scite.ai

10624 S. Eastern Ave., Ste. A-614

Henderson, NV 89052, USA

Blog Terms and Conditions API Terms Privacy Policy Contact Cookie Preferences Do Not Sell or Share My Personal Information

Made with 💙 for researchers

Part of the Research Solutions Family.

Prise en charge du syndrome de blépharophimosis ptôsis épicanthus inversus (SBPE) dans un centre de référence en Tunisie

Cited by 2 publications

References 31 publications

ITGB5 mutation discovered in a Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome

ITGB5 mutation discovered in a Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome

Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES): Brief review of genetics, clinical presentation, and management

Contact Info

Product

Resources

About