Article
Trio-based exome sequencing arrests de novo mutations in early-onset high myopia.
Proceedings of the National Academy of Sciences of the United States of America - 18 Apr 2017
Jin Zi-Bing, Wu Jinyu, Huang Xiu-Feng, Feng Chun-Yun, Cai Xue-Bi, Mao Jian-Yang, Xiang Lue, Wu Kun-Chao, Xiao Xueshan, Kloss Bethany A, Li Zhongshan, Liu Zhenwei, Huang Shenghai, Shen Meixiao, Cheng Fei-Fei, Cheng Xue-Wen, Zheng Zhi-Li, Chen Xuejiao, Zhuang Wenjuan, Zhang Qingjiong, Young Terri L, Xie Ting, Lu Fan, Qu Jia
Abstract excerpt
The etiology of the highly myopic condition has been unclear for decades. We investigated the genetic contributions to early-onset high myopia (EOHM), which is defined as having a refraction of less than or equal to -6 diopters before the age of 6, when children are less likely to be exposed to high educational pressures. Trios (two nonmyopic parents and one child) were examined to uncover pathogenic mutations...
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