Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

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.

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2.

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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3.

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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4.

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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5.

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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6.

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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7.

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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8.

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

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9.

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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10.

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

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11.

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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12.

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

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13.

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

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14.

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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15.

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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16.

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

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17.

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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18.

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

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19.

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

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20.

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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21.

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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22.

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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23.

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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24.

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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25.

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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26.

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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27.

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

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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.

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