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

Related Diseases:

Axenfeld-Rieger Anomaly
FOXC1

References:

1.

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

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2.

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

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3.

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

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4.

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

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5.

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.

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6.

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

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7.

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

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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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14.

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).

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15.

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

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16.

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.

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17.

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

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18.

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

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19.

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.

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20.

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

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21.

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

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22.

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

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23.

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

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24.

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

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25.

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.

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26.

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

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27.

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.

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28.

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.

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29.

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.

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30.

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

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31.

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

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32.

Orphanet article

Orphanet ID 121883 [^]
33.

NCBI article

NCBI 2296 [^]
34.

OMIM.ORG article

Omim 601090 [^]
35.

Wikipedia article

Wikipedia EN (Forkhead_box_C1) [^]
Update: April 29, 2019