Identification of novel FZD4 mutations in Indian patients withfamilial exudative vitreoretinopathy

[摘要] Purpose: To identify novel mutations in FZD4 gene that causefamilial exudative vitreoretinopathy (FEVR) in Indian patients.Methods: The study was conducted on 75 subjects from 53 Indianfamilies. These families were clinically diagnosed to have FEVR byfundus examination and fluorescein angiography. The candidate gene FZD4was amplified from genomic DNA and PCR products were screened formutations by single strand conformational polymorphism (PCR-SSCP),TA-cloning followed by bi-directional sequencing.Results: For the FZD4 exonic region, three mutations wereidentified, including two novel sequence variations (C204R, F82fsX135)and one reported (P33S) mutation. These sequence changes were notobserved in 100 normal controls and clinically unaffected family membersanalyzed.Conclusions: Mutations in FZD4 were observed in 5.6% of theclinically diagnosed FEVR, in the studied Indian population. Theidentified genetic variations of FZD4 could play a vital role inpathogenesis and provide greater insight in to the genotype/phenotypicfunctions of FZD4 gene.

[学科分类] 生物化学/生物物理