Exome sequencing reveals CCDC111 mutation associated with high myopia

Hum Genet. 2013 Aug;132(8):913-21. doi: 10.1007/s00439-013-1303-6. Epub 2013 Apr 12.


Myopia is a refractive error of the eye that is prevalent worldwide. The most extreme form, high myopia, is usually associated with other ocular disorders such as retinal detachment, macular degeneration, cataract, and glaucoma, and is one of leading causes of blindness. The etiology is complex and has not been fully elucidated. In this study, we identified a novel missense variant of the CCDC111 gene (NM_152683.2: c.265T > G; p.Y89D) in a high myopia family by exome sequencing. The variant was identified in 4 patients from an additional 270 sporadic high myopia patients, but not found in 270 controls. The amino acid is highly conserved across species, and variants giving rise to amino acid substitutions are predicted to be functionally damaging. The CCDC111 gene was ubiquitously expressed in primary cell cultures from human eye tissue, including corneal epithelial cells, choroidal melanoma cells, scleral fibroblasts, retinal epithelial cells, retinal Müller cells, and lens capsule epithelial cells. In summary, our results suggested that the CCDC111 may be a susceptibility gene for high myopia.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Amino Acid Sequence
  • DNA Primase
  • DNA-Directed DNA Polymerase
  • Exome / genetics*
  • Female
  • Gene Expression
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Multifunctional Enzymes
  • Mutation, Missense / genetics*
  • Myopia / genetics*
  • Nuclear Proteins / genetics*
  • Pedigree
  • Polymorphism, Single Nucleotide / genetics
  • RNA, Messenger / genetics
  • Real-Time Polymerase Chain Reaction
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sequence Homology, Amino Acid
  • Young Adult


  • Multifunctional Enzymes
  • Nuclear Proteins
  • RNA, Messenger
  • DNA Primase
  • PrimPol protein, human
  • DNA-Directed DNA Polymerase