Insights Into the FOXE3 Transcriptional Network and Disease Mechanisms From the Investigation of a Regulatory Variant Driving Complex Microphthalmia.

doi:10.1167/iovs.66.11.47

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Insights Into the FOXE3 Transcriptional Network and Disease Mechanisms From the Investigation of a Regulatory Variant Driving Complex Microphthalmia.

Investigative ophthalmology & visual science - 1 Aug 2025

Plaisancié Julie, Angée Clémentine, Erjavec Elisa, Raymond-Letron Isabelle, Douet Jean-Yves, Goetz Mathilde, Vincent-Delorme Catherine, Karemaker Ino D, Baltissen Marijke, Vermeulen Michiel, Valdivia Leonardo, Jabot-Hanin Fabienne, David Pierre, Hadjadj Djihad, Monsef Yanad Abou, Lyazrhi Faouzi, Calvas Patrick, Rozet Jean-Michel, Chassaing Nicolas, Fares-Taie Lucas

Abstract excerpt

Purpose: FOXE3 encodes a highly conserved, lens-enriched transcription factor essential for eye development. Biallelic mutations in FOXE3 are associated with a spectrum of ocular anomalies, ranging from congenital cataracts to complex microphthalmia (CM), with severity and penetrance correlating with genotype. This study aimed to investigate the regulatory landscape of FOXE3 and its contribution to CM. Methods:...

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Identifiers

PMID: 40833324
DOI: 10.1167/iovs.66.11.47
PMCID: PMC12383885

Genes

FOXE3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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