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Article

Novel FOXC2 Mutation and Distichiasis in a Patient With Lymphedema-Distichiasis Syndrome.

Ophthalmic plastic and reconstructive surgery - 1 Jan 2000

De Niear Matthew A, Breazzano Mark P, Mawn Louise A

Abstract excerpt

A 4 year-old-boy was referred for distichiasis of the upper and lower lids of both eyes that had been present since at least 1 year of age. The patient's family history was notable for distichiasis and lymphedema affecting numerous family members. The patient was found to have a novel heterozygous variant (c.741_742insGG) in the FOXC2 gene. Mutations in the FOXC2 gene are associated with lymphedema-distichiasis...

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Identifiers

PMID: 29406328
DOI: 10.1097/IOP.0000000000001079

Genes

FOXC2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel FOXC2 Mutation and Distichiasis in a Patient With Lymphedema-Distichiasis Syndrome.PMID 29406328Read ↗

Mutation of the FOXC2 gene in familial distichiasis.Semantic proximity Read ↗

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

Ophtalmologic diagnosis of lymphedema-distichiasis syndrome through the FOXC2 mutation.Semantic proximity Read ↗

Novel FOXC2 Mutation in Hereditary Distichiasis Impairs DNA-Binding Activity and Transcriptional Activation.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 ↗

Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations.Semantic proximity Read ↗

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

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

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

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

Literature watch. FOXC2 haploinsufficient mice are a model for human autosomal dominant lymphedema-distichiasis syndrome.Semantic proximity Read ↗

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

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