Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands
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- 作者：Li Huang ; Xueshan Xiao ; Shiqiang Li ; Xiaoyun Jia ; Panfeng Wang ; Wenmin Sun ; Yan Xu ; Wei Xin ; Xiangming Guo ; Qingjiong Zhang ; zhangqji@mail.sysu.edu.cn" class="auth_mail" title="E-mail the corresponding author ; qingjiongzhang@yahoo.com" class="auth_mail" title="E-mail the corresponding author
- 关键词：Cone-rod dystrophy ; Molecular genetics ; Sanger sequencing ; Whole exome sequencing ; Chinese population
- 刊名：Experimental Eye Research
- 出版年：2016
- 出版时间：May 2016
- 年：2016
- 卷：146
- 期：Complete
- 页码：252-258
- 全文大小：669 K
文摘
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Additional mutations in 29 probands were identified, including 28 of 61 new probands and one proband previously analyzed.
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Overall, mutations in the 217 RetNet genes may explain 57.1% (93/163) of Chinese probands with cone-rod dystrophy.
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Of the 93 probands with mutations, 84 had mutations in 12 of the 30 CORD genes, and nine in 5 of the other 187 genes.
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The most frequently mutated gene was CNGA3, accounting for 57.0% (53/93) of probands with mutations.