A novel PAX6 deletion in a Chinese family with congenital aniridia.
A novel PAX6 deletion in a Chinese family with congenital aniridia.
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一个患有先天性无虹膜的中国家庭中出现了一种新的 PAX6 缺失。
DOI：
10.1016/j.gene.2015.03.001
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发表时间：
2015-05
期刊：
影响因子：
3.5
通讯作者：
Jin Xueming
中科院分区：
文献类型：
--
作者：
Liu Qiong;Wan Wencui;Liu Yaning;Liu Yuying;Hu Zhengmao;Guo Hui;Xia Kun;Jin Xueming
Aniridia is a rare, congenital ocular disorder with the characteristics of incomplete formation of the iris caused by the mutations of the paired box gene-6 (PAX6). To investigate the clinical characterization and the underlying genetic defect in a Chinese family with autosomal dominant aniridia, we recruited the family members who underwent comprehensive ophthalmic examination. A novel heterozygousPAX6deletion mutation c.796 del G (p.A266 fs) (GenBank ID: KP255960) in exon 10 was exclusively observed in all affected individuals but not in any of the unaffected family members or unrelated controls. ThePAX6mRNA level was about 50% lower in patients with aniridia than in unaffected family members, indicating that this mutation caused nonsense-mediated mRNA decay. In conclusion, we identified a novel deletion mutation in thePAX6gene resulting in an abnormal PAX6 COOH-terminal extension in the Chinese family with aniridia. Our study further expands the mutation spectrum ofPAX6.
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中国南方两例散发性经典无虹膜患者的 PAX6 分析
影响因子：
2.2
作者：
Lin, Ying;Yan, Hong;Liu, Yizhi;Liu, Xialin;Yu, Shanshan;Luo, Lixia;Liang, Xuanwei;Wang, Zhonghao;Chen, Chuan;Zhu, Yi;Ye, Shaobi
通讯作者：
Ye, Shaobi
DOI：
10.1073/pnas.0914785107
发表时间：
2010-08-31
影响因子：
11.1
作者：
Conte, Ivan;Carrella, Sabrina;Banfi, Sandro
通讯作者：
Banfi, Sandro
DOI：
10.3760/cma.j.issn.0412-4081.2009.10.015
发表时间：
2009-10
期刊：
[Zhonghua yan ke za zhi] Chinese journal of ophthalmology
影响因子：
--
作者：
Pengcheng Li;Q. Yao;X. Ren;Ming-Chang Zhang;Hui Li;Jing-Yu Liu;Shuang-yan Sheng;Qing Wang;
通讯作者：
Pengcheng Li;Q. Yao;X. Ren;Ming-Chang Zhang;Hui Li;Jing-Yu Liu;Shuang-yan Sheng;Qing Wang;
中国北方遗传性无虹膜配对盒6基因突变分析
影响因子：
2.2
作者：
Chen, Peng;Zang, Xinjie;Sun, Dapeng;Wang, Ye;Wang, Yao;Zhao, Xiaowen;Zhang, Mohan;Xie, Lixin
通讯作者：
Xie, Lixin
DOI：
--
发表时间：
2008-04
期刊：
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
影响因子：
--
作者：
Y. Kang;H. Yuan;Yuan-yuan Li
通讯作者：
Y. Kang;H. Yuan;Yuan-yuan Li