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

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Investigation reveals effects of FOXE3 gene mutations on ocular anomalies, indicating roles of regulatory variants in eye development.

Phenotypic severity of complex microphthalmia varies with specific mutations in the FOXE3 gene, highlighting genotype influence.
A truncating mutation and regulatory variant were identified, with severe ocular anomalies linked to the variations.
Mouse models showed that regulatory and frameshift mutations led to distinct ocular phenotypes through gene expression changes.
Findings suggest that USF2 is a key regulator in the FOXE3 transcriptional network affecting lens development.

Plaisancié et al. (2025) studied this question.

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