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Exome sequencing reveals CCDC111 mutation associated with high myopia

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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.

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Acknowledgments

The authors wish to thank the participants from the study who made this work possible. This study was sponsored by the National Basic Research Program of China (973 Project, No: 2011CB504604), the National Natural Science Foundation of China (81170880, and 81070751), the Zhejiang Provincial Natural Science Foundation of China (Z2100065), the Zhejiang Provincial Program for the Cultivation of High-level Innovative Health Talents, and the Program for New Century Excellent Talents in the University, National Ministry of Education Grant NCET-10–0977.

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Authors and Affiliations

  1. School of Ophthalmology and Optometry and Eye Hospital, Wenzhou Medical College, 270 Xueyuan Road, Wenzhou, 325003, Zhejiang, People’s Republic of China

    Fuxin Zhao, Anquan Xue, Yanfeng Su, Xiaojing Wang, Xianmin Lu, Zhonglou Zhou, Jia Qu & Xiangtian Zhou

  2. State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health P.R. China and Zhejiang Provincial Key Laboratory of Ophthalmology and Optometry, Wenzhou, Zhejiang, China

    Fuxin Zhao, Anquan Xue, Yanfeng Su, Xiaojing Wang, Xianmin Lu, Zhonglou Zhou, Jia Qu & Xiangtian Zhou

  3. The Institute of Genomic Medicine, Wenzhou Medical College, Wenzhou, Zhejiang, China

    Jinyu Wu

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  1. Fuxin Zhao
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  2. Jinyu Wu
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  4. Yanfeng Su
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  7. Zhonglou Zhou
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  8. Jia Qu
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  9. Xiangtian Zhou
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Correspondence to Jia Qu or Xiangtian Zhou.

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This study was approved by the research review board at Wenzhou Medical College. Informed consent was obtained from each subject and each was treated in accordance with the tenets of the Declaration of Helsinki.

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Zhao, F., Wu, J., Xue, A. et al. Exome sequencing reveals CCDC111 mutation associated with high myopia. Hum Genet 132, 913–921 (2013). https://doi.org/10.1007/s00439-013-1303-6

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