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Article

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

American journal of medical genetics. Part A - 1 Jan 2021

Wallis Mathew, Pope-Couston Rachel, Mansour Julia, Amor David J, Tang Paisu, Stock-Myer Sharyn

Abstract excerpt

Lymphedema distichiasis syndrome (LDS) is a rare autosomal dominant condition characterized by lower limb lymphedema, distichiasis, and variable additional features. LDS is usually caused by heterozygous sequence variants in the FOXC2 gene located at 16q24, but in one previous instance LDS has resulted from a balanced reciprocal translocation with a breakpoint at 16q24, 120 kb distal to the FOXC2 gene suggesting...

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Share to Enhancer Elements, Genetic
Share to Forkhead Transcription Factors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Hydrops Fetalis

Share to Lower Extremity

Share to Lymphedema

Share to Promoter Regions, Genetic

Share to Regulatory Sequences, Nucleic Acid

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Identifiers

PMID: 33107170
DOI: 10.1002/ajmg.a.61935

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