Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

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.

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

external link
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.

external link
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.

external link
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.

external link
5.

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

external link
6.

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

external link
7.

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

external link
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.

external link
9.

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

external link
10.

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

external link
11.

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

external link
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.

external link
13.

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

external link
14.

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

external link
15.

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

external link
16.

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

external link
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.

external link
18.

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

external link
19.

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

external link
20.

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

external link
21.

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

external link
22.

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

external link
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.

external link
24.

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

external link
25.

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

external link
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.

external link
27.

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

external link
28.

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

external link
29.

Orphanet article

Orphanet ID 121891 external link
30.

NCBI article

NCBI 2303 external link
31.

OMIM.ORG article

Omim 602402 external link
Update: 14. August 2020
Copyright © 2005-2020 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz