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Article

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

American journal of human genetics - 1 Dec 2000

Fang J, Dagenais S L, Erickson R P, Arlt M F, Glynn M W, Gorski J L, Seaver L H, Glover T W

Abstract excerpt

Lymphedema-distichiasis (LD) is an autosomal dominant disorder that classically presents as lymphedema of the limbs, with variable age at onset, and double rows of eyelashes (distichiasis). Other complications may include cardiac defects, cleft palate, extradural cysts, and photophobia, suggestin...

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Share to Chromosomes, Human, Pair 16
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Forkhead Transcription Factors

Share to In Situ Hybridization, Fluorescence

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Source

Open in PubMed Open full text

Identifiers

PMID: 11078474
DOI: 10.1086/316915
PMCID: PMC1287915

Genes

FOXC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-11078474-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome.PMID 11078474Read ↗

Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene.Semantic proximity Read ↗

Lymphedema distichiasis syndrome may be caused by FOXC2 promoter-enhancer dissociation and disruption of a topological associated domain.Semantic proximity Read ↗

Truncating mutations in FOXC2 cause multiple lymphedema syndromes.Semantic proximity Read ↗

Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24.Semantic proximity Read ↗

Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation.Semantic proximity Read ↗

Novel FOXC2 Mutation and Distichiasis in a Patient With Lymphedema-Distichiasis Syndrome.Semantic proximity Read ↗

FOXC2 haploinsufficient mice are a model for human autosomal dominant lymphedema-distichiasis syndromeSemantic proximity Read ↗

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

Foxc2 is expressed in developing lymphatic vessels and other tissues associated with lymphedema-distichiasis syndrome.Semantic proximity Read ↗

FOXC2 Disease Mutations Identified in Lymphedema Distichiasis Patients Impair Transcriptional Activity and Cell ProliferationSemantic proximity Read ↗

FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate.Semantic proximity Read ↗

Novel missense mutations in the FOXC2 gene alter transcriptional activity.Semantic proximity Read ↗

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