FOXE3 gene


Gene (OMIM No.)
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)
  • Autosomal recessive
  • Autosomal dominant
Ocular featuresAnterior segment dysgenesis 2:Cataract 34:
Systemic featuresAnterior 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 diagnosisNext generation sequencing
  • Targeted gene panels (MAC/cataract)
  • Whole genome sequencing
Therapies under research
  • None at present
Further information

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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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  1.  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
  2.  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
  3.  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
  4.  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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