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Fuxin Zhao, Xiangtian Zhou, Anquan Xue, Yanfeng Su, Jia Qu; CCDC111 mutation was identified in high myopia through exome sequencing. Invest. Ophthalmol. Vis. Sci. 2013;54(15):3361.
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© ARVO (1962-2015); The Authors (2016-present)
To identify a novel genetic cause of high myopia in Chinese family
Exome sequencing was performed on one affected subject of high myopia family. 170 sporadic patients with high myopia and 170 matched normal controls for genotyping using MassArray. The 100 sporadic patients and the 100 controls for other variant of gene using Sanger sequencing. Expression was analyzed in human cell line, especially in eye tissue.
One variant c.9812T>G in coiled-coil domain containing 111 gene (CCDC111) was identified associated with phenotype of this family. Genotyping was carried on using MassARRAY platform in additional 170 patients and 170 controls, and the variant (c.9812T>G) was found in two patients, but did not find in the 170 controls. To identify other variant in CCDC111 gene, Sanger sequencing was used. In 100 sporadic patients, two variants were found, one variant, c.9812T>G found in two patients, did not find in 100 controls. Another variant in Exon 6 (m.503G>A), which found in patients and controls, of PolyPhen-2 was used to predict, the influence for protein was light, it considered as a single nucleotide polymorphism. The CCDC111 gene was expressed in the human Epic-Human gastric epithelial cells (HGM), Human embryonic kidney epithelial cells (293T), Human corneal epithelial cells (HCEC), Choroidal melanoma cells (UM-U-96), Human scleral fibroblasts (Pre-S110), Human embryonic lung fibroblasts (LX-2), Human retinal epithelial cells (R92), Human retinal müller cells (MIOMI), Human lens capsule epithelial cells (L1).
Using exome sequencing technique, we have identified CCDC111 as a causative susceptibility gene of high myopia in a Chinese family.
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