A Common Trinucleotide Repeat Expansion within the Transcription Factor 4 (TCF4, E2-2) Gene Predicts Fuchs Corneal Dystrophy

• Published in: PloS one Vol. 7; no. 11; p. e49083
• Main Authors: Wieben, Eric D., Aleff, Ross A., Tosakulwong, Nirubol, Butz, Malinda L., Highsmith, W. Edward, Edwards, Albert O., Baratz, Keith H.
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 21.11.2012; Public Library of Science (PLoS)
• Subjects: Aged; Aged, 80 and over; Alleles; Analysis; Apoptosis; Base Sequence; Basic Helix-Loop-Helix Leucine Zipper Transcription Factors - genetics; Biochemistry; Biology; Blotting, Southern; Case-Control Studies; Chromosomes; Chromosomes, Human, Pair 18 - genetics; Cornea; Corneal dystrophy; Corneal transplantation; Data processing; Deoxyribonucleic acid; DNA; DNA repeat expansion; DNA sequencing; Dystrophy; Edema; Endothelium; Eye diseases; Female; Fuchs' Endothelial Dystrophy - genetics; Gene sequencing; Genes; Genetic aspects; Genetic Predisposition to Disease; Genetic testing; Genome, Human - genetics; Health risks; Humans; Intellectual disabilities; Kinases; Laboratories; Leukocytes; Male; Medicine; Microsatellite Repeats - genetics; Middle Aged; Molecular biology; Molecular Sequence Data; Pathogenesis; Patients; Polymorphism; Primers; Proteins; Reproducibility of Results; Sequence Analysis, DNA; Single nucleotide polymorphisms; Single-nucleotide polymorphism; Southern blotting; Transcription Factor 4; Transcription factors; Transcription Factors - genetics; Transplantation; Trinucleotide Repeat Expansion - genetics; Oregon; United States > US; Minnesota

Fuchs endothelial corneal dystrophy (FECD) is a common, familial disease of the corneal endothelium and is the leading indication for corneal transplantation. Variation in the transcription factor 4 (TCF4) gene has been identified as a major contributor to the disease. We tested for an association b...