Mutational Spectrum of theZEB1Gene in Corneal Dystrophies Supports a Genotype–Phenotype Correlation
Investigative Ophthalmology & Visual Science2013Vol. 54(5), pp. 3215–3215
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Judith Lechner, Durga Prasad Dash, Dorota Muszynska, S. Mohsen Hosseini, Fani Segev, Sonia George, David G. Frazer, Jonathan E. Moore, Stephen B. Kaye, Terri L. Young, David Simpson, A Churchill, Elise Héon, Colin E. Willoughby
Abstract
Our data combined with the previously reported mutational spectrum of ZEB1 support a genotypephenotype correlation: missense substitutions in the ZEB1 protein are associated with FECD6 and keratoconus, whereas protein truncating ZEB1 mutations result in PPCD3. The dysregulation of α-type IV collagens represents a common link between ZEB1 mutation and the clinical phenotypes (PPCD3, FECD, and keratoconus).
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