Identification of BIGH3 gene mutations in the patients with two types of corneal dystrophies / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To identify the mutations of BIGH3 gene in Chinese patients with corneal dystrophies.</p><p><b>METHODS</b>Polymerase chain reaction in exon 4, exon 12 and direct DNA sequencing of BIGH3 gene were performed in fifteen patients with corneal dystrophies and ten normal individuals as controls.</p><p><b>RESULTS</b>Mutations in BIGH3 gene were detected in all the patients with corneal dystrophies. BIGH3 gene mutations were not found in normal subjects. Twelve patients with Avellino corneal dystrophy had the missense mutation R124H in the BIGH3 gene. Three patients with granular corneal dystrophy had the missense mutation R555W in the BIGH3 gene.</p><p><b>CONCLUSION</b>R124H and R555W mutations in BIGH3 gene were found in the patients with Avellino and granular corneal dystrophies. Avellino corneal dystrophy associated with the R124H mutation is the most common form in the corneal dystrophies resulting from BIGH3 gene mutations. Condons 124 and 555 are also the hot spots for the mutations in the BIGH3 gene in the Chinese patients with corneal dystrophies.</p>