Analysis Of TGFBI Gene Mutation In A Chinese Family With Lattice Corneal Dystrophy I

Purpose: To identify mutations within the TGFBI gene in a Chinese family withlattice corneal dystrophy type I (LCD I).Methods: Genomic DNA of three affected, four unaffected family members and fiftynormal individuals was extracted from peripheral leukocytes. All exons of TGFBIgene were amplified by polymerase chain reaction (PCR) methods and directsequencing was carried out for mutation analysis.Results: A missense mutation (1565T﹥A) in exon12of the TGFBI led to an aminoacid substitution I522N in the TGFB-induced protein in all affected family members,but not detected in normal subjects of the family and control individuals.Conclusion: We conclude that the novel mutation I522N causes lattice cornealdystrophy type I in the studied family. This is the first report of the I522N mutationwithin the TGFBI gene in LCD I worldwide.