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Exome sequencing reveals CCDC111 mutation associated with high myopia.
- Source :
-
Human genetics [Hum Genet] 2013 Aug; Vol. 132 (8), pp. 913-21. Date of Electronic Publication: 2013 Apr 12. - Publication Year :
- 2013
-
Abstract
- 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.
- Subjects :
- Adolescent
Adult
Aged
Amino Acid Sequence
DNA Primase
DNA-Directed DNA Polymerase
Female
Gene Expression
High-Throughput Nucleotide Sequencing
Humans
Male
Middle Aged
Molecular Sequence Data
Multifunctional Enzymes
Pedigree
Polymorphism, Single Nucleotide genetics
RNA, Messenger genetics
Real-Time Polymerase Chain Reaction
Reverse Transcriptase Polymerase Chain Reaction
Sequence Homology, Amino Acid
Young Adult
Exome genetics
Mutation, Missense genetics
Myopia genetics
Nuclear Proteins genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1432-1203
- Volume :
- 132
- Issue :
- 8
- Database :
- MEDLINE
- Journal :
- Human genetics
- Publication Type :
- Academic Journal
- Accession number :
- 23579484
- Full Text :
- https://doi.org/10.1007/s00439-013-1303-6