Case Study: Identification of a New FOXC1 Variant c.311T>G (p.Ile104Ser) in a Chinese Family Affected by Axenfeld-Rieger Syndrome

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A novel FOXC1 variant c.311T>G (p.Ile104Ser) was identified in a Chinese family affected by Axenfeld-Rieger syndrome.
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The proband and his sister were initially misdiagnosed with juvenile-onset open-angle glaucoma due to overlapping symptoms.
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Clinical evaluations revealed anterior segment dysgenesis and characteristic facial features consistent with Axenfeld-Rieger syndrome.
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The identified FOXC1 variant was absent in the East Asian population and predicted to be highly deleterious.
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Incomplete penetrance was observed in the unaffected father, highlighting the phenotypic complexity of FOXC1-related disorders.

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