Recombinant Human Forkhead box protein E3 (FOXE3)

1. The sclerocornea-microphthalmia-aphakia complex is a severe malformative ocular phenotype resulting from mutations in the FOXE3 transcription factor. To date, patients from at least 14 families with this uncommon ocular disorder have been described. The identification of 2 novel pathogenic variants in our patients expands the mutational spectrum in FOXE3-related congenital eye disorders. PMID: 29878917
2. Data show that DnaJ (Hsp40) homolog, subfamily B, member 1 (DNAJB1) is a transcriptional target of forkhead box protein E3 (FOXE3) in a pathway that is crucial for the development of the anterior segment of the eye. PMID: 27218149
3. Although congenital aphakia is known to be caused by mutations in the FOXE3 gene, the results of lack of coding mutation in this patient suggests a possible genetic heterogeneity of the disease. PMID: 28805541
4. Only one novel missense mutation in exon 1 of FOXE3 (Chr1:47,882,459, c.472G>C, p.Gly158Arg) was identified being homozygous in the three affected and heterozygous in the two unaffected, which was confirmed by Sanger sequencing. PMID: 27669367
5. FOXE3 mutations lead to a reduced number of aortic smooth muscle cells (SMCs) during development and increased SMC apoptosis in the ascending aorta in response to increased biomechanical forces. PMID: 26854927
6. This is the first functional evidence demonstrating that FOXE3 mutations identified in patients impair protein function with differential effects. PMID: 25504734
7. Our results indicate that the FOXE3 p.Val201Met allele is associated with eye defects (OR = 3.5), suggesting its involvement as an ocular malformation risk factor. PMID: 24689660
8. This study demonstrates that a cluster of patients with sclerocornea, aphakia, and microphthalmia in a small Mexican village is due to a FOXE3 p.Y98H founder mutation. PMID: 24019743
9. shRNA-mediated gene silencing of FOXE3 could significantly inhibit cell growth and induce the G1-phase arrest in human lens epithelial cell line-3 cells. PMID: 22527307
10. The FOXE3 mutation detected in c.601 G > A, predicting p.Val201Met which were not yet been included in public databases, but has previously been reported in both A/M patients. PMID: 22204637
11. Autosomal-dominant mutations within FOXE3 cause anterior segment dysgenesis and has important clinical utility, especially for the diagnosis of mildly affected patients. PMID: 21150893
12. Using autoantibodies from systemic sclerosis (SSc) patients, two anti-CENP-A-specific motifs were defined in its immunodominant epitope Ap17-30. One of these motifs matched residues 53-62 of FOXE3, a protein not previously implicated in SSc. PMID: 20630806
13. This is the fourth report detailing homozygous FOXE3 mutations causing anterior segment abnormalities in human patients. PMID: 20664696
14. Mutations in several transcription factors associated with aniridia and congenital cataract, FOXE3, (PAX6), PITX2, and PITX3 genes, were examined. PMID: 20806047
15. FOXE3 is responsible for the early developmental arrest of the lens placode, and the complete loss of a functional FOXE3 protein results in primary aphakia. PMID: 20361012
16. Recessive mutations in FOXE3 were found in four of 26 probands affected with bilateral microphthalmia (15% of all bilateral microphthalmia and 100% of consanguineous families with this phenotype). PMID: 20140963
17. Role very early in the lens developmental program, perhaps earlier than any role recognized elsewhere for this gene. PMID: 16826526
18. findings suggest that mutations in FOXE3 can give rise to a broad spectrum of eye anomalies, largely, but not exclusively related to lens development, and that both dominant and recessive inheritance patterns can be represented PMID: 19708017
19. FOXE3 is essential for closure of the lens vesicle during eye development and for lens epithelial survival and proliferation. PMID: 10652278

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HGNC: 3808

OMIM: 601094

KEGG: hsa:2301

STRING: 9606.ENSP00000334472

UniGene: Hs.112968