FOXE3 gene

Overview
Microphthalmia, anophthalmia, coloboma (MAC)
Anterior segment dysgenesis
Congenital cataract
Additional information
References

Overview

Gene (OMIM No.)	FOXE3 (#601094)
Function of gene/protein	Protein: forkhead box E3 Crucial for the development of the lens other anterior segment structures Regulates other genes by binding to specific DNA regions (transcription factor)
Clinical phenotype (OMIM phenotype no.)	Aortic aneurysm, familial thoracic 11, susceptibility to (#617349) Anterior segment dysgenesis 2, multiple subtypes (#610256) Cataract 34, multiple types (# 612968)
Inheritance	Autosomal recessive Autosomal dominant
Ocular features	Anterior segment dysgenesis 2: Microphthalmia, anophthalmia, coloboma (MAC) spectrum Anterior segment dysgenesis Ectopia lentis/aphakia Anterior iris synechiae Cataract 34: Congenital cataract Corneal opacity Microcornea Nystagmus
Systemic features	Anterior segment dysgenesis 2/Cataract 34: No extraocular anomalies reported
Key investigations	B-scan USS to measure axial length to document microphthalmia and detect any posterior abnormalities in congenital cataract cases Electrophysiology TORCH screen for children with congenital cataract MRI brain and orbit
Molecular diagnosis	Next generation sequencing Targeted gene panels (MAC/cataract) Whole genome sequencing
Management	Ocular Management of MAC Management of anterior segment dysgenesis Management of congenital cataract
Therapies under research	None at present
Further information	OMIM

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Additional information

Mutations in FOXE3 which cause thoracic aortic aneurysm and those which cause ocular conditions are located at opposite ends of the protein’s DNA binding domain (C-terminal and N-terminal respectively). Biallelic FOXE3 mutations tend to have bilateral ocular phenotype.

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References

Butt T, Yao W, Kaul H, et al. Localization of autosomal recessive congenital cataracts in consanguineous Pakistani families to a new locus on chromosome 1p. Mol Vis. 2007;13:1635‐1640
Cheong SS, Hentschel L, Davidson AE, et al. Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis. Am J Hum Genet. 2016;99(6):1338‐1352
Khan SY, Vasanth S, Kabir F, et al. FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1. Nat Commun. 2016;7:10953
Kuang SQ, Medina-Martinez O, Guo DC, et al. FOXE3 mutations predispose to thoracic aortic aneurysms and dissections. J Clin Invest. 2016;126(3):948‐961

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Updated on November 30, 2020

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