Mutation Analysis For TGFBI Related Corneal Dystrophies

Aim:To know the inherited traits in chinese patients with lattice corneal dystrophy and granular corneal dystrophy ; Investigate the association between the corneal dystrophy and the TGFBI gene through molecular genetics and to establish the mutation spectrum in TGFBI.Methods:Corneal dystrophy familys were collected,processing detailed ophthalmology examination and family survey.Peripheral blood samples was collected and extracted the genomic DNA. 17 exons of TGFBI was amplified and the products were were sequenced directly. directly. Restrietion digestion analysis was uesd to identified the mutation and carry out the mutation screening of family members. Searching the published articles about the mutation of TGFBI in chinese to draw the mutation spectrum..Results:(1)7 corneal dystrophy pedigrees were collected including 1 LCDâ… ,2 atypical LCD,2 GCDâ… and 2 GCDâ…¡.(2) There were differences in the clinical syndrome between the different types CD.(3) Discover from the falmily tree:The prevalence of GCD is higher than LCD, female was significantly higher than male, the familyâ… ,â…¡,â…¢,â…£conform to autosomal dominant inherited disease.(4) Mutation in TGFBI gene were detected in all the patients with corneal dystrophies, four mutations had been reported and one was novel mutaion.(5)GCD was the most prevalent type in chinese patients with TGFBI corneal dystrophy, Our observation also showed that the phenotypes correlated strongly with specific mutations in TGFBI, including that between GCD1 and R555W, GCD2 and R124H, and LCD1 and R124C.R124 and R555 were the main mutational site.Conclusion:(1) This studye confirmed that TGFBI corneal dystrophy was characteristic of heterogeneity and the tight relationship between thegenetype and thephenotype.(2) autosomal dominant inheritance was demonstrated again in our study.(3) This study confirmed the mutation of TGFBI in 7 families and found a novel mutation c. 1838-1849.del in one family ralated atypical LCD.(4) GCD was the most prevalent type in chinese patients with TGFBI corneal dystrophy, R124 and R555 were the main mutational site.