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

Experimental eye research - 1 Sept 2022

Jiang Lingxi, Ren Weiming, Xie Chunbao, Duan Suyang, Dai Chao, Wei Yao, Luo Dongyan, Wang Tingting, Gong Bo, Liu Xiaoqi, Yang Zhenglin, Ye Zimeng, Chen Hui, Shi Yi

Abstract excerpt

Lymphedema-dissociated syndrome (LDS), of which the pathogenesis is not fully understood, afflicts many patients. In this study, we investigated the effect of FOXC2 gene loss-of-function on the development of LDS disease. Two Han Chinese families with LDS were recruited in this study, pathogenic mutations were identified by Sanger sequencing. Reverse-transcription PCR, subcellular localization, dual fluorescein...

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PMID: 35716761
DOI: 10.1016/j.exer.2022.109136

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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