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Kyu-yeon Hwang, Jeewon Mok, Chang Rae Rho, Choun-Ki Joo; Three novel mutations in COL8A2 gene of Korean patients with Fuchs’ endothelial corneal dystrophy. Invest. Ophthalmol. Vis. Sci. 2013;54(15):4728.
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To investigate the genetic basis of the Fuchs’ endothelial corneal dystrophy (FECD), we did a screening for mutations of collagen type VIII alpha 2(COL8A2) gene located on 1p34.3-p32.
Genomic DNA was extracted from blood samples of eight families included 18 affected patients and 34 individuals with FECD visited our clinic. Polymerase chain reaction and direct sequencing were done for detecting genetic variations in COL8A2. Control individuals (n=70) were selected from general population without corneal disease.
Screening of COL8A2 gene revealed four nonsynonymous mutations, four synonymous and two polymorphisms in Korean FECD patients. Among them, we detected five novel mutations; three nonsynonymous mutations, P24R in one family and three individual patients, G31R in one individual and G463R two individuals, and two synonymous mutations, L8L in six individuals and I464I in one individual, respectively. And also we detected five reported variations. In 11 patients of three families, we found a heterozygous two base-pair transitions from CA to GT in exon 2, resulting in a substitution of Valine by Glutamine (Q455V). In three families and 30 individual patients, we found a heterozygous single base pair transition from C to T (ACG->ATG) in the second nucleotide position of codon 502 (T502M). And we found heterozygous for R155Q in one family and 15 individual patients. Two mutations, R155Q and T502M were also found in unaffected individuals.
In this study, we identified four nonsynonymous mutations, which included a reported mutation Q455V, and three novel mutations - P24R, G31R and G463R in COL8A2 of Korean patients with FECD. Our result provides that these mutations are a genetic susceptibility factor for the development of Korean patients with FECD.
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