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Forkhead box protein C2

The FOXC2 gene encodes a transcription factor. Mutations cause autosomal dominant hereditary lymphedema with distichiasis which may or may not be accopanied by diabetes and renal involvement.

Genetests:

Clinic 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:

Hereditary lymphedema with distichiasis
FOXC2
Hereditary lymphedema with distichiasis, diabetes, and renal involvement
FOXC2
Hereditary lymphedema with distichiasis, diabetes, and renal involvement
FOXC2

References:

1.

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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2.

Stankiewicz P et al. (2009) Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.

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3.

Mani SA et al. (2007) Mesenchyme Forkhead 1 (FOXC2) plays a key role in metastasis and is associated with aggressive basal-like breast cancers.

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4.

Berry FB et al. (2005) The establishment of a predictive mutational model of the forkhead domain through the analyses of FOXC2 missense mutations identified in patients with hereditary lymphedema with distichiasis.

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5.

Sholto-Douglas-Vernon C et al. (2005) Lymphoedema-distichiasis and FOXC2: unreported mutations, de novo mutation estimate, families without coding mutations.

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6.

Ng MY et al. (2005) Linkage to the FOXC2 region of chromosome 16 for varicose veins in otherwise healthy, unselected sibling pairs.

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7.

Kovacs P et al. (2003) Genetic variation in the human winged helix/forkhead transcription factor gene FOXC2 in Pima Indians.

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8.

Osawa H et al. (2003) Systematic search for single nucleotide polymorphisms in the FOXC2 gene: the absence of evidence for the association of three frequent single nucleotide polymorphisms and four common haplotypes with Japanese type 2 diabetes.

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9.

Bahuau M et al. (2002) FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate.

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10.

Ridderstråle M et al. (2002) FOXC2 mRNA Expression and a 5' untranslated region polymorphism of the gene are associated with insulin resistance.

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11.

Cederberg A et al. (2001) FOXC2 is a winged helix gene that counteracts obesity, hypertriglyceridemia, and diet-induced insulin resistance.

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12.

Miura N et al. (1997) Isolation of the mouse (MFH-1) and human (FKHL 14) mesenchyme fork head-1 genes reveals conservation of their gene and protein structures.

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13.

Kaestner KH et al. (1996) Clustered arrangement of winged helix genes fkh-6 and MFH-1: possible implications for mesoderm development.

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14.

Miura N et al. (1993) MFH-1, a new member of the fork head domain family, is expressed in developing mesenchyme.

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15.

Rezaie T et al. (2008) Primary non-syndromic lymphoedema (Meige disease) is not caused by mutations in FOXC2.

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16.

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

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17.

Winnier GE et al. (1997) The winged helix transcription factor MFH1 is required for proliferation and patterning of paraxial mesoderm in the mouse embryo.

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18.

Iida K et al. (1997) Essential roles of the winged helix transcription factor MFH-1 in aortic arch patterning and skeletogenesis.

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19.

Mangion J et al. (1999) A gene for lymphedema-distichiasis maps to 16q24.3.

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20.

Fang J et al. (2000) Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome.

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21.

Bell R et al. (2001) Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene.

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22.

Erickson RP et al. (2001) Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations.

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23.

Brice G et al. (2002) Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24.

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24.

Kriederman BM et al. (2003) FOXC2 haploinsufficient mice are a model for human autosomal dominant lymphedema-distichiasis syndrome.

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25.

FALLS HF et al. (1964) A NEW SYNDROME COMBINING PTERYGIUM COLLI WITH DEVELOPMENTAL ANOMALIES OF THE EYELIDS AND LYMPHATICS OF THE LOWER EXTREMITIES.

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26.

Yildirim-Toruner C et al. (2004) A novel frameshift mutation of FOXC2 gene in a family with hereditary lymphedema-distichiasis syndrome associated with renal disease and diabetes mellitus.

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27.

Mellor RH et al. (2007) Mutations in FOXC2 are strongly associated with primary valve failure in veins of the lower limb.

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28.

Finegold DN et al. (2001) Truncating mutations in FOXC2 cause multiple lymphedema syndromes.

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29.

Orphanet article

Orphanet ID 121891 external link
30.

NCBI article

NCBI 2303 external link
31.

OMIM.ORG article

Omim 602402 external link
32.

Wikipedia article

Wikipedia EN (FOXC2) external link
Update: Aug. 14, 2020
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