Homozygous variant FOXE3 causes autosomal recessive anterior segment dysgenesis type 2: a case report
Authors: Zuha Alkhaldi , Moosa Allawati , Nadia Alhashmi
Abstract
Background: Anterior segment dysgenesis (ASD) is a developmental condition that affects the frontal part of the eyes. Genetic mutations in FORKHEAD BOX E3 can lead to a variety of ASD conditions. Case Presentation: Here, we report a 2-year-old female patient with ASD type 2 autosomal recessive linked disease. Whole exome sequencing test was conducted and resulted in a missense mutation at position 120 altering arginine to proline. To our knowledge, this is the first case reported in Oman. Conclusion: For patients with ASD, it is crucial to take the full family history and genetic work up to aid in the diagnosis and long-term management of the condition.Keywords: Case report, anterior segment dysgenesis, ASD, FOXE3
Pubmed Style
Zuha Alkhaldi, Moosa Allawati, Nadia Alhashmi. Homozygous variant FOXE3 causes autosomal recessive anterior segment dysgenesis type 2: a case report. JBC Genetics. 2023; 04 (March 2023): 75-79. doi:10.24911/JBCGenetics/183-1670866871
Publication History
Received: December 12, 2022
Revised: December 31, 2022
Accepted: January 17, 2023
Published: March 04, 2023
Authors
Zuha Alkhaldi
Sultan Qaboos University, Muscat, Sultanate of Oman
Moosa Allawati
Sultan Qaboos University, Muscat, Sultanate of Oman
Nadia Alhashmi
Clinical & Biochemical Geneticist, Child health Department, Royal Hospital, Muscat, Sultanate of Oman.