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 |
Verknüpfte Erkrankungen:
Referenzen:
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
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30. |
NCBI article
NCBI 2303
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31. |
OMIM.ORG article
Omim 602402
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Update: 14. August 2020