Comprehensive assessment of genetic variants within TCF4 in Fuchs' endothelial corneal dystrophy.

doi:10.1167/iovs.14-14958

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Article

Comprehensive assessment of genetic variants within TCF4 in Fuchs' endothelial corneal dystrophy.

Investigative ophthalmology & visual science - 28 Aug 2014

Wieben Eric D, Aleff Ross A, Eckloff Bruce W, Atkinson Elizabeth J, Baheti Saurabh, Middha Sumit, Brown William L, Patel Sanjay V, Kocher Jean-Pierre A, Baratz Keith H

Abstract excerpt

PURPOSE: The single nucleotide variant (SNV), rs613872, in the transcription factor 4 (TCF4) gene was previously found to be strongly associated (P = 6 × 10(-26)) with Fuchs' endothelial corneal dystrophy (FECD). Subsequently, an intronic expansion of the repeating trinucleotides, TGC, was found to be even more predictive of disease. We performed comprehensive sequencing of the TCF4 gene region in order to...

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PMID: 25168903
DOI: 10.1167/iovs.14-14958
PMCID: PMC4179444

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TCF4

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