TGFBI gene mutations in three Chinese families with autosomal dominant corneal dystrophy / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To screen the transforming growth factor, beta-induced (TGFBI) gene mutation in three Chinese families with autosomal dominant corneal dystrophy.</p><p><b>METHODS</b>Analysis of the TGFBI gene mutations was performed by direct sequencing of the whole coding regions and exon-intron boundaries of the TGFBI gene in all affected members from the three families.</p><p><b>RESULTS</b>Three kinds of TGFBI gene mutations, R124C and H626R were detected in the patients of the two lattice conneal dystrophy families, and R124H was detected in the Avellino corneal dystrophy family.</p><p><b>CONCLUSION</b>TGFBI gene mutations are the underlying molecular mechanism of the pathogenesis for corneal dystrophy. The R124 and H626 are the hot spots of TGFBI gene mutation in this disease.</p>