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Repeat-Associated Non-ATG (RAN) Translation in Fuchs' Endothelial Corneal Dystrophy.

Invest. Ophthalmol. Vis. Sci.. 2018;

SoragniElisabetta，PetrosyanLina，RinkoskiTommy A，WiebenEric D，BaratzKeith H，FautschMichael P，GottesfeldJo

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摘要

The strongest genetic association with Fuchs' endothelial corneal dystrophy (FECD) is the presence of an intronic (CTG·CAG)n trinucleotide repeat (TNR) expansion in the transcription factor 4 (TCF4) gene. Repeat-associated non-ATG (RAN) translation， an unconventional protein translation mechanism that does not require an initiating ATG， has been described in many TNR expansion diseases， including myotonic dystrophy type 1 (DM1). Given the similarities between DM1 and FECD， we wished to determine whether RAN translation occurs in FECD.