Study of TGFBI gene mutations in the patients with corneal dystrophy in northeast of China

AIM: To explore the mutation type of TGFBI gene in a lattice-like corneal dystrophy(LCD)family in northeast China. METHODS: A basic ophthalmologic examination was performed on the patients and two normal persons in the family. Genomic DNA of three affected, two unaffected family members and 50 normal individuals was extracted from peripheral leukocytes. All exons of TGFBI were amplified by polymerase chain reaction(PCR)methods and direct sequencing was carried out for mutation analysis. RESULTS: A missense mutation(c.370C>T)in exon 4 of TGFBI led to an amino acid substitution R124C in the TGFBI protein in all affected family members, but the mutation was not detected in normal subjects of the family and control individuals. CONCLUSION: We conclude that the novel mutation R124C causes lattice corneal dystrophy type I in the studied family. It was verified that R124C is a hot spot mutation in LCD I