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Article

Novel missense mutations in the FOXC2 gene alter transcriptional activity.

Human mutation - 1 Dec 2009

van Steensel M A M, Damstra R J, Heitink M V, Bladergroen R S, Veraart J, Steijlen Peter M, van Geel M

Abstract excerpt

Mutations in the FOXC2 gene that codes for a forkhead transcription factor are associated with primary lymphedema that usually develops around puberty. Associated abnormalities include distichiasis and, very frequently, superficial and deep venous insufficiency. Most mutations reported so far either truncate the protein or are missense mutations in the forkhead domain causing a loss of function. The...

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Source

Identifiers

PMID: 19760751
DOI: 10.1002/humu.21127

Genes

FOXC2
FOXC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Novel missense mutations in the FOXC2 gene alter transcriptional activity.PMID 19760751Read ↗

FOXC2 disease-mutations identified in lymphedema-distichiasis patients cause both loss and gain of protein function.Semantic proximity Read ↗

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Genetic landscape of FOXC2 mutations in lymphedema-distichiasis syndrome: Different mechanism of pathogenicity for mutations in different domains.Semantic proximity Read ↗

Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome.Semantic proximity Read ↗

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Lymphedema-distichiasis syndrome and FOXC2 gene mutation.Semantic proximity Read ↗

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