Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Forkhead box-Protein C2

Das FOXC2-Gen kodiert einen Transkriptionsfaktor. Mutationen sind für das hereditäres Lymphödem mit Distichiasis verantwortlich, welches mit Diabetes und Nierenerkrankung einhergehen kann.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Hereditäres Lymphödem mit Distichiasis
FOXC2
Hereditäres Lymphödem mit Distichiasis, Diabetes und Nierenbeteiligung
FOXC2
Hereditäres Lymphödem mit Distichiasis, Diabetes und Nierenbeteiligung
FOXC2

Referenzen:

1.

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

[^]
2.

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

[^]
3.

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

[^]
4.

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

[^]
5.

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

[^]
6.

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

[^]
7.

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

[^]
8.

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

[^]
9.

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

[^]
10.

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

[^]
11.

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

[^]
12.

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.

[^]
13.

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

[^]
14.

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

[^]
15.

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

[^]
16.

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

[^]
17.

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

[^]
18.

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.

[^]
19.

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

[^]
20.

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

[^]
21.

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

[^]
22.

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.

[^]
23.

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

[^]
24.

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

[^]
25.

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

[^]
26.

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.

[^]
27.

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

[^]
28.

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.

[^]
29.

Orphanet article

Orphanet ID 121891 [^]
30.

NCBI article

NCBI 2303 [^]
31.

OMIM.ORG article

Omim 602402 [^]
Update: 29. April 2019