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Masakazu Nakano, Naoki Okumura, Hiroko Nakagawa, Noriko Koizumi, Yoko Ikeda, Morio Ueno, Kengo Yoshii, Hiroko Adachi, Ross A. Aleff, Malinda L. Butz, W. Edward Highsmith, Kei Tashiro, Eric D. Wieben, Shigeru Kinoshita, Keith H. Baratz; Trinucleotide Repeat Expansion in the TCF4 Gene in Fuchs' Endothelial Corneal Dystrophy in Japanese. Invest. Ophthalmol. Vis. Sci. 2015;56(8):4865-4869. doi: 10.1167/iovs.15-17082.
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The purpose of this study was to evaluate the association between the intronic expansion of a trinucleotide repeat (TNR) in the TCF4 gene and Fuchs' endothelial corneal dystrophy (FECD) in a Japanese population.
Forty-seven Japanese FECD patients and 96 age-matched controls were recruited. FECD patients and controls were examined by slit-lamp and noncontact specular microscopy. The repeat length was determined by direct sequencing and short tandem repeat assay of PCR-amplified DNA and Southern blotting of unamplified DNA.
A TNR expansion, defined as >50 CTG repeats in the TCF4 gene was identified in 12 of 47 FECD cases (26%) and 0 of 96 controls (0%; P < 0.001). Sensitivity and specificity in this study were 26% and 100%, respectively. The clinical characteristics of FECD patients with TNR expansion were not distinct from those without TNR expansion.
These findings show for the first time in a Japanese population the association of the TNR expansion in TCF4 with FECD. In contrast to Caucasian cohorts in whom the TNR expansion is present in most patients with FECD, a CTG expansion is present in a minority of Japanese subjects, indicating other genetic variants as common causes of phenotypically identical disease in this population.
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