Mutation analysis of seven known glaucoma-associated genes in Chinese patients with glaucoma

Invest Ophthalmol Vis Sci. 2014 May 13;55(6):3594-602. doi: 10.1167/iovs.14-13927.


Purpose: To evaluate mutations in the MYOC, WDR36, OPTN, OPA1, NTF4, CYP1B1, and LTBP2 genes in a cohort of Chinese patients with primary glaucoma.

Methods: Genomic DNA was prepared from 683 unrelated patients, including 50 with primary congenital glaucoma, 104 with juvenile open-angle glaucoma (JOAG), 186 with primary open-angle glaucoma (POAG), and 343 with primary angle-closure glaucoma (PACG). Mutations in the seven genes in 257 patients (36 with JOAG, 89 with POAG, and 132 with PACG) were initially analyzed by exome sequencing and then confirmed by Sanger sequencing. In addition, Sanger sequencing was used to detect MYOC mutations in the remaining 426 patients.

Results: Exome sequencing identified 19 mutations (6 in MYOC, 9 in WDR36, 3 in OPA1, and 1 in OPTN) in 20 of 257 patients, including 4 patients with JOAG, 8 patients with POAG, and 8 patients with PACG. No mutation was detected in the other three genes. In addition, Sanger sequencing detected additional MYOC mutations in 5 of the remaining 426 patients, including 3 patients with JOAG and 2 patients with POAG.

Conclusions: Twenty-two mutations in MYOC, WDR36, OPA1, and OPTN were detected in 25 of the 683 patients with primary glaucoma, including nine MYOC mutations in 11 patients, nine WDR36 mutations in 11 patients, three OPA1 mutations in 3 patients, and one OPTN mutation in a patient who also carried a MYOC mutation. Eight mutations in MYOC, WDR36, and OPA1 in 8 of the 343 PACG patients are of uncertain significance and need to be analyzed further.

Keywords: exome sequencing; genes; mutation screening; primary angle closure glaucoma; primary open angle glaucoma.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • China / epidemiology
  • DNA / analysis*
  • DNA Mutational Analysis / methods
  • Exome
  • Eye Proteins / genetics*
  • Eye Proteins / metabolism
  • Female
  • Genetic Predisposition to Disease
  • Genetic Testing / methods*
  • Glaucoma / epidemiology
  • Glaucoma / genetics*
  • Glaucoma / metabolism
  • Humans
  • Male
  • Mutation*
  • Pedigree
  • Prevalence


  • Eye Proteins
  • DNA