Analysis of TGFBI gene mutation in a Chinese family with atypical Reis-Bückler corneal dystrophy

Objective To identify the TGFBI gene mutation and the relationship between genotype and phenotype of a Chinese family with atypical Reis-Bückler corneal dystrophy (RBCD). Methods Four patients, two non-carrier relatives of the family were enrolled in the present study. In addition to ophthalmologic examinations, PCR amplification and DNA sequencing of exons 4, 11, 12, and 14 of the TGFBI gene were carried out. Exon 14 was also sequenced in 100 healthy controls. Results A G to A transition at eodon 623 in all affected members was identified. This mutation resulted in a substitution of glyeine (GGC) to aspartic acid (GAC) at the protein level. None of the healthy family members, or any of the 100 control subjects carried this mutation. Conclusion The G623D mutation of the TGFBI gene caused an atypical Reis-Buckler corneal dystrophy in this family. This mutation is reported in Chinese for the first time.