Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Forkhead box protein C1

The FOXC1 gene encodes a transcription factor that is involved in early eye development. Mutations cause autosomal dominant Axenfeld-Rieger Anomalie.

Genetests:

Research Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Axenfeld-Rieger Anomaly
FOXC1

References:

1.

Pearce WG et. al. (1982) Autosomal dominant iridogoniodysgenesis. A genetic and clinical study.

[^]
2.

Pierrou S et. al. (1994) Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending.

[^]
3.

Larsson C et. al. (1995) Chromosomal localization of six human forkhead genes, freac-1 (FKHL5), -3 (FKHL7), -4 (FKHL8), -5 (FKHL9), -6 (FKHL10), and -8 (FKHL12).

[^]
4.

Gould DB et. al. (1997) Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25.

[^]
5.

Nishimura DY et. al. (1998) The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25.

[^]
6.

Kume T et. al. (1998) The forkhead/winged helix gene Mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus.

[^]
7.

Mears AJ et. al. (1998) Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly.

[^]
8.

Hong HK et. al. (1999) Pleiotropic skeletal and ocular phenotypes of the mouse mutation congenital hydrocephalus (ch/Mf1) arise from a winged helix/forkhead transcriptionfactor gene.

[^]
9.

Mirzayans F et. al. (2000) Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25.

[^]
10.

Smith RS et. al. (2000) Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development.

[^]
11.

Lehmann OJ et. al. (2000) Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma.

[^]
12.

Nishimura DY et. al. (2001) A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye.

[^]
13.

Saleem RA et. al. (2001) Analyses of the effects that disease-causing missense mutations have on the structure and function of the winged-helix protein FOXC1.

[^]
14.

Kume T et. al. (2001) The murine winged helix transcription factors, Foxc1 and Foxc2, are both required for cardiovascular development and somitogenesis.

[^]
15.

Lines MA et. al. (2002) Molecular genetics of Axenfeld-Rieger malformations.

[^]
16.

Lehmann OJ et. al. (2002) Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions.

[^]
17.

Honkanen RA et. al. (2003) A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene.

[^]
18.

Libby RT et al. (2003) Modification of ocular defects in mouse developmental glaucoma models by tyrosinase.

[^]
19.

Saleem RA et. al. (2003) Structural and functional analyses of disease-causing missense mutations in the forkhead domain of FOXC1.

[^]
20.

Maclean K et. al. (2005) Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome.

[^]
21.

Descipio C et. al. (2005) Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome.

[^]
22.

Lin RJ et. al. (2005) Terminal deletion of 6p results in a recognizable phenotype.

[^]
23.

Berry FB et. al. (2006) Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis.

[^]
24.

Ito YA et. al. (2007) Analyses of a novel L130F missense mutation in FOXC1.

[^]
25.

Zarbalis K et. al. (2007) Cortical dysplasia and skull defects in mice with a Foxc1 allele reveal the role of meningeal differentiation in regulating cortical development.

[^]
26.

Berry FB et. al. (2008) FOXC1 is required for cell viability and resistance to oxidative stress in the eye through the transcriptional regulation of FOXO1A.

[^]
27.

Weisschuh N et. al. (2008) A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly.

[^]
28.

Chanda B et. al. (2008) A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation.

[^]
29.

Aldinger KA et. al. (2009) FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.

[^]
30.

Fetterman CD et. al. (2009) Characterization of a novel FOXC1 mutation, P297S, identified in two individuals with anterior segment dysgenesis.

[^]
31.

Omatsu Y et. al. (2014) Foxc1 is a critical regulator of haematopoietic stem/progenitor cell niche formation.

[^]
Update: Sept. 26, 2018