Article
Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.
American journal of human genetics - 1 Mar 2018
Liskova Petra, Dudakova Lubica, Evans Cerys J, Rojas Lopez Karla E, Pontikos Nikolas, Athanasiou Dimitra, Jama Hodan, Sach Josef, Skalicka Pavlina, Stranecky Viktor, Kmoch Stanislav, Thaung Caroline, Filipec Martin, Cheetham Michael E, Davidson Alice E, Tuft Stephen J, Hardcastle Alison J
Abstract excerpt
In a large family of Czech origin, we mapped a locus for an autosomal-dominant corneal endothelial dystrophy, posterior polymorphous corneal dystrophy 4 (PPCD4), to 8q22.3-q24.12. Whole-genome sequencing identified a unique variant (c.20+544G>T) in this locus, within an intronic regulatory region of GRHL2. Targeted sequencing identified the same variant in three additional previously unsolved PPCD-affected...
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