Purpose: To identify novel mutations in FZD4 gene that cause familial exudative vitreoretinopathy (FEVR) in Indian patients.
Methods: The study was conducted on 75 subjects from 53 Indian families. These families were clinically diagnosed to have FEVR by fundus examination and fluorescein angiography. The candidate gene FZD4 was amplified from genomic DNA and PCR products were screened for mutations by single strand conformational polymorphism (PCR-SSCP), TA-cloning followed by bi-directional sequencing.
Results: For the FZD4 exonic region, three mutations were identified, including two novel sequence variations (C204R, F82fsX135) and one reported (P33S) mutation. These sequence changes were not observed in 100 normal controls and clinically unaffected family members analyzed.
Conclusions: Mutations in FZD4 were observed in 5.6% of the clinically diagnosed FEVR, in the studied Indian population. The identified genetic variations of FZD4 could play a vital role in pathogenesis and provide greater insight in to the genotype/phenotypic functions of FZD4 gene.