CUGC for posterior polymorphous corneal dystrophy (PPCD)

Eur J Hum Genet. 2020 Jan;28(1):126-131. doi: 10.1038/s41431-019-0448-8. Epub 2019 Jun 14.

Abstract

Name of the disease (synonyms) CUGC for posterior polymorphous corneal dystrophy (PPCD).OMIM# of the disease 122000; 609141; 618031.Name of the analysed genes or DNA/chromosome segments OVOL2 (PPCD1); ZEB1 (PPCD3); GRHL2 (PPCD4).OMIM# of the gene(s) 616441; 189909; 608576. Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for variants in theOVOL2, ZEB1andGRHL2gene(s) in a diagnostic setting, predictive and parental settings and for risk assesment in relatives.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Corneal Dystrophies, Hereditary / diagnosis
  • Corneal Dystrophies, Hereditary / genetics*
  • DNA-Binding Proteins / genetics
  • Genetic Testing / methods*
  • Genetic Testing / standards
  • Humans
  • Practice Guidelines as Topic
  • Sensitivity and Specificity
  • Transcription Factors / genetics
  • Zinc Finger E-box-Binding Homeobox 1 / genetics

Substances

  • DNA-Binding Proteins
  • GRHL2 protein, human
  • Ovol2 protein, human
  • Transcription Factors
  • ZEB1 protein, human
  • Zinc Finger E-box-Binding Homeobox 1

Supplementary concepts

  • Corneal Dystrophy, Posterior Polymorphous, 1