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Analysis of FOXD3 sequence variation in human ocular disease
Bethany A Volkmann Kloss1, Linda M Reis, Dominique Brémond-Gignac
1Department of Pediatrics and Children’s Research Institute, Medical College of Wisconsin and Children's Hospital of Wisconsin, Milwaukee, WI, USA.
Molecular Vision
|July 21, 2012
Summary
Mutations in the FOXD3 gene are linked to increased risk of anterior segment dysgenesis, a group of human eye diseases. These findings highlight FOXD3
Area of Science:
- Genetics
- Ophthalmology
- Developmental Biology
Background:
- Neural crest cells are crucial for anterior eye segment development.
- Mutations in genes regulating neural crest development can cause anterior segment dysgenesis (ASD).
- The forkhead box D3 (FOXD3) gene is vital for neural crest specification.
Purpose of the Study:
- Investigate the role of FOXD3 gene variations in human developmental ocular conditions.
- Determine if FOXD3 mutations are associated with anterior segment dysgenesis phenotypes.
Main Methods:
- Screened 310 individuals with developmental ocular conditions for FOXD3 gene variations.
- Analyzed identified FOXD3 variants for association with specific ocular phenotypes and control populations.
Main Results:
- Identified six nonsynonymous FOXD3 variants in probands.
- Four variants in conserved regions were associated with aniridia or Peters anomaly.
- One variant (p.Arg273_Gly276dup) was absent in controls and linked to aniridia, anophthalmia, or cataracts.
- Another variant (p.Asn173His) showed enrichment in aniridia/Peters anomaly cases.
Conclusions:
- FOXD3 gene variants are associated with an increased risk of anterior segment dysgenesis.
- The p.Asn173His mutation impacts a conserved residue in the forkhead domain, potentially affecting protein interactions.
- Further research is needed to identify cofactors that may modulate FOXD3's phenotypic effects.
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