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

Open access Creative Commons License

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

Web Style

Zuha Alkhaldi, Moosa Allawati, Nadia Alhashmi. Homozygous variant FOXE3 causes autosomal recessive anterior segment dysgenesis type 2: a case report. https://www.jbcgenetics.com/index.php/articles/2085 [Access: April 27, 2025]. doi:10.24911/JBCGenetics/183-1670866871

AMA (American Medical Association) 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

Vancouver/ICMJE Style

Zuha Alkhaldi, Moosa Allawati, Nadia Alhashmi. Homozygous variant FOXE3 causes autosomal recessive anterior segment dysgenesis type 2: a case report. JBC Genetics. (2023), [cited April 27, 2025]; 04 (March 2023): 75-79. doi:10.24911/JBCGenetics/183-1670866871

Harvard Style

Zuha Alkhaldi, Moosa Allawati, Nadia Alhashmi (2023) Homozygous variant FOXE3 causes autosomal recessive anterior segment dysgenesis type 2: a case report. JBC Genetics, 04 (March 2023): 75-79. doi:10.24911/JBCGenetics/183-1670866871

Chicago Style

Zuha Alkhaldi, Moosa Allawati, Nadia Alhashmi. "Homozygous variant FOXE3 causes autosomal recessive anterior segment dysgenesis type 2: a case report." 04 (2023), 75-79. doi:10.24911/JBCGenetics/183-1670866871

MLA (The Modern Language Association) Style

Zuha Alkhaldi, Moosa Allawati, Nadia Alhashmi. "Homozygous variant FOXE3 causes autosomal recessive anterior segment dysgenesis type 2: a case report." 04.March 2023 (2023), 75-79. Print. doi:10.24911/JBCGenetics/183-1670866871

APA (American Psychological Association) Style

Zuha Alkhaldi, Moosa Allawati, Nadia Alhashmi (2023) Homozygous variant FOXE3 causes autosomal recessive anterior segment dysgenesis type 2: a case report. , 04 (March 2023), 75-79. doi:10.24911/JBCGenetics/183-1670866871