Arg124Cys mutation of the TGFBI gene in 2 Chinese families with Thiel-Behnke corneal dystrophy.

Objective: To analyze transforming growth factor beta-induced (TGFBI) gene mutations in 2 Chinese families with Thiel-Behnke corneal dystrophy (TBCD).

Methods: Forty-five individuals in 2 Chinese families with TBCD were examined using slitlamp biomicroscopy. Genomic DNA was extracted from peripheral leukocytes of affected and unaffected family members. Molecular genetic analysis of the TGFBI gene was performed using polymerase chain reaction and standard automated sequencing methods.

Results: In 17 family members with TBCD, an Arg124Cys (R124C) mutation of the TGFBI gene was identified, whereas the Arg555Gln (R555Q) mutation was absent. The Arg124Cys mutation was absent in all unaffected individuals.

Conclusions: The Arg124Cys mutation was associated with TBCD in 2 Chinese families. This mutation in the TGFBI gene may induce different phenotypes of corneal dystrophy. Clinical Relevance Thiel-Behnke corneal dystrophy may be caused by an Arg124Cys mutation of the TGFBI gene.