Homozygous variant FOXE3 causes autosomal recessive anterior segment dysgenesis type 2: a case report

Zuha Alkhaldi; Moosa Allawati; Nadia Alhashmi

doi:10.24911/JBCGenetics/183-1670866871

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Case Report
Online Published: 04 Mar 2023

JBCGenetics. 2023; 6(1): 75-79

doi: 10.24911/JBCGenetics/183-1670866871

Homozygous variant FOXE3 causes autosomal recessive anterior segment dysgenesis type 2: a case report

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.

Key words: Case report, anterior segment dysgenesis, ASD, FOXE3.

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Pubmed Style

Alkhaldi Z, Allawati M, Alhashmi N. Homozygous variant FOXE3 causes autosomal recessive anterior segment dysgenesis type 2: a case report. JBCGenetics. 2023; 6(1): 75-79. doi:10.24911/JBCGenetics/183-1670866871

Web Style

Alkhaldi Z, Allawati M, Alhashmi N. Homozygous variant FOXE3 causes autosomal recessive anterior segment dysgenesis type 2: a case report. https://www.jbcgenetics.com/?mno=94277 [Access: November 14, 2024]. doi:10.24911/JBCGenetics/183-1670866871

AMA (American Medical Association) Style

Alkhaldi Z, Allawati M, Alhashmi N. Homozygous variant FOXE3 causes autosomal recessive anterior segment dysgenesis type 2: a case report. JBCGenetics. 2023; 6(1): 75-79. doi:10.24911/JBCGenetics/183-1670866871

Vancouver/ICMJE Style

Alkhaldi Z, Allawati M, Alhashmi N. Homozygous variant FOXE3 causes autosomal recessive anterior segment dysgenesis type 2: a case report. JBCGenetics. (2023), [cited November 14, 2024]; 6(1): 75-79. doi:10.24911/JBCGenetics/183-1670866871

Harvard Style

Alkhaldi, Z., Allawati, . M. & Alhashmi, . N. (2023) Homozygous variant FOXE3 causes autosomal recessive anterior segment dysgenesis type 2: a case report. JBCGenetics, 6 (1), 75-79. doi:10.24911/JBCGenetics/183-1670866871

Turabian Style

Alkhaldi, Zuha, Moosa Allawati, and Nadia Alhashmi. 2023. Homozygous variant FOXE3 causes autosomal recessive anterior segment dysgenesis type 2: a case report. Journal of Biochemical and Clinical Genetics, 6 (1), 75-79. doi:10.24911/JBCGenetics/183-1670866871

Chicago Style

Alkhaldi, Zuha, Moosa Allawati, and Nadia Alhashmi. "Homozygous variant FOXE3 causes autosomal recessive anterior segment dysgenesis type 2: a case report." Journal of Biochemical and Clinical Genetics 6 (2023), 75-79. doi:10.24911/JBCGenetics/183-1670866871

MLA (The Modern Language Association) Style

Alkhaldi, Zuha, Moosa Allawati, and Nadia Alhashmi. "Homozygous variant FOXE3 causes autosomal recessive anterior segment dysgenesis type 2: a case report." Journal of Biochemical and Clinical Genetics 6.1 (2023), 75-79. Print. doi:10.24911/JBCGenetics/183-1670866871

APA (American Psychological Association) Style

Alkhaldi, Z., Allawati, . M. & Alhashmi, . N. (2023) Homozygous variant FOXE3 causes autosomal recessive anterior segment dysgenesis type 2: a case report. Journal of Biochemical and Clinical Genetics, 6 (1), 75-79. doi:10.24911/JBCGenetics/183-1670866871

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