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Gene Review

FOXE3  -  forkhead box E3

Homo sapiens

Synonyms: FKHL12, FREAC-8, FREAC8, Forkhead box protein E3, Forkhead-related protein FKHL12, ...
 
 
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Disease relevance of FOXE3

  • Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts [1].
  • The recent identification of a mutation in Foxe3 that causes congenital primary aphakia in humans marks an important milestone [2].
 

High impact information on FOXE3

  • We show that a null mutation in the FOXE3 gene segregates and, in the homozygous state, produces the mutant phenotype in this family [3].
  • Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans [3].
  • Many of these abnormalities, such as irido-corneal and irido-lenticular adherences, are present in a less severe form in mice heterozygous for the Foxe3 mutation, in spite of these having an intact lens epithelium [4].
  • Foxe3 is required for morphogenesis and differentiation of the anterior segment of the eye and is sensitive to Pax6 gene dosage [4].
  • Here we confirm, by targeted inactivation, that Foxe3 mutations are responsible for the dyl phenotype, which include loss of lens epithelium; a small, cataractic lens; and failure of the lens to detach from the surface ectoderm [4].
 

Biological context of FOXE3

  • In a small cohort (n = 13) of patients with Peters' anomaly, shown to be normal in the PAX6 locus, one individual was found to be heterozygous for a nonconservative missense mutation in FOXE3 [5].
 

Anatomical context of FOXE3

  • Knockdown of Foxe3 protein using an antisense morpholino results in small lenses with multilayered epithelial cells and fiber cell dysmorphogenesis [6].
 

Analytical, diagnostic and therapeutic context of FOXE3

  • FOXE3 from human patients with Peters' anomaly was PCR amplified and sequenced [5].

References

  1. Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts. Semina, E.V., Brownell, I., Mintz-Hittner, H.A., Murray, J.C., Jamrich, M. Hum. Mol. Genet. (2001) [Pubmed]
  2. Foxe view of lens development and disease. Medina-Martinez, O., Jamrich, M. Development (2007) [Pubmed]
  3. Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans. Valleix, S., Niel, F., Nedelec, B., Algros, M.P., Schwartz, C., Delbosc, B., Delpech, M., Kantelip, B. Am. J. Hum. Genet. (2006) [Pubmed]
  4. Foxe3 is required for morphogenesis and differentiation of the anterior segment of the eye and is sensitive to Pax6 gene dosage. Blixt, A., Landgren, H., Johansson, B.R., Carlsson, P. Dev. Biol. (2007) [Pubmed]
  5. Foxe3 haploinsufficiency in mice: a model for Peters' anomaly. Ormestad, M., Blixt, A., Churchill, A., Martinsson, T., Enerbäck, S., Carlsson, P. Invest. Ophthalmol. Vis. Sci. (2002) [Pubmed]
  6. Zebrafish foxe3: Roles in ocular lens morphogenesis through interaction with pitx3. Shi, X., Luo, Y., Howley, S., Dzialo, A., Foley, S., Hyde, D.R., Vihtelic, T.S. Mech. Dev. (2006) [Pubmed]
 
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