Identification of a novel MYOC mutation, p.(Trp373), in a family with open angle glaucoma

Gene. 2014 Jul 25;545(2):271-5. doi: 10.1016/j.gene.2014.04.033. Epub 2014 Apr 21.

Abstract

MYOC gene variants are associated with autosomal dominant primary open angle glaucoma (POAG). In this study, we describe a previously unreported MYOC variant segregating with a POAG phenotype in an Australian family. Two individuals affected with POAG and three unaffected individuals from the same family were recruited through the Australian and New Zealand Registry of Advanced Glaucoma (ANZRAG). Direct sequencing of all MYOC coding exons identified the novel heterozygous single nucleotide transition MYOC:c.1119G>A, p.(Trp373), predicted to encode an aberrant truncated MYOC protein in two affected siblings. Two unaffected siblings and an unaffected niece were negative for the MYOC sequence variant.

Keywords: Genetic testing; Glaucoma; Myocilin; POAG.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aged, 80 and over
  • Codon
  • Cytoskeletal Proteins / genetics*
  • DNA Mutational Analysis
  • Eye Proteins / genetics*
  • Female
  • Glaucoma, Open-Angle / diagnosis
  • Glaucoma, Open-Angle / genetics*
  • Glycoproteins / genetics*
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Pedigree
  • Retina / pathology
  • Tomography, Optical Coherence

Substances

  • Codon
  • Cytoskeletal Proteins
  • Eye Proteins
  • Glycoproteins
  • trabecular meshwork-induced glucocorticoid response protein