Haya: The Saudi Journal of Life Sciences (SJLS)
Volume-11 | Issue-08 | 463-474
Original Research Article
Mutational Analysis of FOXE3 Gene Causing Cataract in Pakistani Family
Romana Javeed, Nadeem Ur Rehman, Peter John, Attique Ahmed, Najeeb Khan, Anbareen, Masood Shah, Ishtiaq Ahmad
Published : Aug. 8, 2026
Abstract
The cataracts which is the major cause of blindness in the world has been largely attributed to genetic mutations especially in high consanguinity regions. Particularly, mutation in the FOXE3 genes is found in the congenital cataracts particularly in those families that have had consanguinity marriages. The topic that will be discussed in this paper will be a consanguinity family of Pakistanis and how the FOXE3 gene mutations are used in the pathogenesis of congenital cataracts. Whole-exome sequencing (WES) and DNA analysis identified that two individuals with the disease in the family contained a mutation in the FOXE3 gene (c.720C>A), which produced a premature stop codon at codon 240. The mutation leads to production of a truncated FOXE3 protein that disrupts the lens formation and cataracts are developed. The research will contribute to the knowledge of genetic causes of cataracts and consequent implications early diagnosis, genetic counseling and treatment of the affected patients in consanguineous groups. The findings demonstrate the importance of genetic testing and early intervention in the treatment of congenital cataracts particularly in high-consanguinity areas.