Case Report
Volume: 6 | Issue: 1 | Published: Mar 04, 2023 | Pages: 75 - 79 | DOI: 10.24911/JBCGenetics/183-1670866871
Homozygous variant FOXE3 causes autosomal recessive anterior segment dysgenesis type 2: a case report
Authors: Zuha Alkhaldi , Moosa Allawati , Nadia Alhashmi
Article Info
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.
Publication History
Received: December 13, 2022
Revised: December 31, 2022
Accepted: January 17, 2023
Published: March 04, 2023
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
