Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene card

Eur J Hum Genet. 2018 Nov;26(11):1713-1718. doi: 10.1038/s41431-018-0227-y. Epub 2018 Aug 8.

Abstract

1. NAME OF THE DISEASE (SYNONYMS): Primary congenital glaucoma (PCG). Glaucoma, congenital (GLC). 2. OMIM# OF THE DISEASE: 231300- GLC3A. 600975- GLC3B. 613085- GLC3C. 613086- GLC3D. 617272- GLC3E. 3. NAME OF THE ANALYSED GENES OR DNA/CHROMOSOME SEGMENTS: CYP1B1. LTBP2. MYOC. FOXC1. TEK. 4. OMIM# OF THE GENE(S): CYP1B1 MIM# 601771. LTBP2 MIM# 602091. MYOC MIM# 601652. FOXC1 MIM# 601090. TEK MIM# 600221. Review of the analytical and clinical validity, as well as of the clinical utility of DNA-based testing for variants in the CYP1B1, LTBP2 and MYOC gene(s) in ⊠ diagnostic, ⊠ predictive and ⊠ prenatal settings and for ⊠ risk assessment in relatives.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cytochrome P-450 CYP1B1 / genetics
  • Cytoskeletal Proteins / genetics
  • Eye Proteins / genetics
  • Forkhead Transcription Factors / genetics
  • Genetic Testing / methods*
  • Glaucoma / congenital
  • Glaucoma / genetics*
  • Glaucoma / pathology
  • Glycoproteins / genetics
  • High-Throughput Nucleotide Sequencing / methods*
  • Humans
  • Latent TGF-beta Binding Proteins / genetics
  • Receptor, TIE-2 / genetics
  • Sequence Analysis, DNA / methods*

Substances

  • Cytoskeletal Proteins
  • Eye Proteins
  • FOXC1 protein, human
  • Forkhead Transcription Factors
  • Glycoproteins
  • LTBP2 protein, human
  • Latent TGF-beta Binding Proteins
  • trabecular meshwork-induced glucocorticoid response protein
  • CYP1B1 protein, human
  • Cytochrome P-450 CYP1B1
  • Receptor, TIE-2
  • TEK protein, human