Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Hereditäres Lymphödem mit Distichiasis

Das hereditäre Lymphödem mit Distichiasis ist eine autosomal dominante Erkrankung, die durch Mutationen im FOXC2-Gen hervorgerufen wird.

Gliederung

Hereditäres Lymphödem
Emberger-Syndrom
Hennekam-Syndrom
Hereditäres Lymphödem Typ 1a
Hereditäres Lymphödem Typ 1c
Hereditäres Lymphödem Typ 1d
Hereditäres Lymphödem mit Distichiasis
FOXC2
Hereditäres Lymphödem mit Distichiasis, Diabetes und Nierenbeteiligung
FOXC2
Mikrocephalie-Lymphödem-Chorioretinopathie-Syndrom

Referenzen:

1.

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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2.

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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3.

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

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4.

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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5.

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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6.

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

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7.

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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8.

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

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9.

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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10.

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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11.

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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12.

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

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13.

Kolin T et. al. (1991) Hereditary lymphedema and distichiasis.

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14.

None (1987) Primary lymphoedema when found with distichiasis is of the type defined as bilateral hyperplasia by lymphography.

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15.

Robinow M et. al. (1970) Distichiasis-lymphedema. A hereditary syndrome of multiple congenital defects.

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16.

None (1968) Congenital intraspinal extradural cyst. Report of three cases in one family.

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17.

None (1967) Congenital spinal extradural cyst in two siblings.

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18.

Cilluffo JM et. al. (1981) Idiopathic ("congenital") spinal arachnoid diverticula. Clinical diagnosis and surgical results.

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19.

Corbett CR et. al. (1982) Congenital heart disease in patients with primary lymphedemas.

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20.

Pap Z et. al. (1980) Syndrome of lymphoedema and distichiasis.

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21.

Schwartz JF et. al. (1980) Hereditary spinal arachnoid cysts, distichiasis, and lymphedema.

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22.

Erickson RP et. al. (1995) A "balanced" Y;16 translocation associated with Turner-like neonatal lymphedema suggests the location of a potential anti-Turner gene on the Y chromosome.

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23.

Johnson SM et. al. (1999) Lymphedema-distichiasis syndrome: report of a case and review.

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24.

Patil BB et. al. (2004) Distichiasis without lymphoedema?

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25.

Kumar S et. al. (2007) A family with lymphoedema-distichiasis where identical twins have a discordant phenotype.

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26.

Yabuki S et. al. (2007) Spinal extradural arachnoid cysts associated with distichiasis and lymphedema.

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