Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2.

doi:10.1016/j.ajhg.2015.11.018

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Article

Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2.

American journal of human genetics - 7 Jan 2016

Davidson Alice E, Liskova Petra, Evans Cerys J, Dudakova Lubica, Nosková Lenka, Pontikos Nikolas, Hartmannová Hana, Hodaňová Kateřina, Stránecký Viktor, Kozmík Zbyněk, Levis Hannah J, Idigo Nwamaka, Sasai Noriaki, Maher Geoffrey J, Bellingham James, Veli Neyme, Ebenezer Neil D, Cheetham Michael E, Daniels Julie T, Thaung Caroline M H, Jirsova Katerina, Plagnol Vincent, Filipec Martin, Kmoch Stanislav, Tuft Stephen J, Hardcastle Alison J

Abstract excerpt

Congenital hereditary endothelial dystrophy 1 (CHED1) and posterior polymorphous corneal dystrophy 1 (PPCD1) are autosomal-dominant corneal endothelial dystrophies that have been genetically mapped to overlapping loci on the short arm of chromosome 20. We combined genetic and genomic approaches to identify the cause of disease in extensive pedigrees comprising over 100 affected individuals. After exclusion of...

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Identifiers

PMID: 26749309
DOI: 10.1016/j.ajhg.2015.11.018
PMCID: PMC4716680

Genes

OVOL2
ZEB1

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