Article

Insights into the FOXE3 Transcriptional Network and Disease Mechanisms from the Investigation of a Regulatory Variant Driving Complex Microphthalmia

2025-01-14

Abstract excerpt

<h4>ABSTRACT</h4> FOXE3 encodes a conserved, lens-specific transcription factor essential for eye development. Biallelic mutations in FOXE3 lead to a spectrum of ocular anomalies, from cataracts to complex microphthalmia (CM), with clinical severity correlating to genotype. In a CM case with a truncating mutation (p.Cys240*), we identified a regulatory variant (rv, rs745674596 G>A) 3 kb upstream of FOXE3 . Mous...

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Literature Corpus work: bf997904-e149-53ab-840e-3c47d5d5e6e6
DOI: 10.1101/2025.01.13.632782

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