PAX6 analysis of two sporadic patients from southern China with classic aniridia
PAX6 analysis of two sporadic patients from southern China with classic aniridia
复制标题
中国南方两例散发性经典无虹膜患者的 PAX6 分析
作者：
Lin, Ying;Yan, Hong;Liu, Yizhi;Liu, Xialin;Yu, Shanshan;Luo, Lixia;Liang, Xuanwei;Wang, Zhonghao;Chen, Chuan;Zhu, Yi;Ye, Shaobi
Purpose To investigate the paired box 6 (PAX6) gene in two sporadic patients from southern China presenting with classic aniridia. Methods The two sporadic patients underwent complete physical and ophthalmic examinations. Genomic DNA was extracted from the leukocytes of the peripheral blood collected from the families of the two sporadic patients and 100 unrelated control subjects from the same population. Exons 4–13 of PAX6 were amplified by polymerase chain reaction (PCR) and sequenced directly. The ophthalmic examinations included best-corrected visual acuity, slit-lamp examination, fundus examination, optical coherence tomography, and Pentacam and Goldmann perimetry. Results The two patients were affected with aniridia accompanied by nystagmus. A heterozygous PAX6 frameshift mutation in exon 7, c.375_376delAG (p.Arg125SerfsX7), was identified in sporadic patient 1 and not in any of the unaffected family members and normal controls. One novel mutation in exon 10, c.868_871dupAGTT (p.Phe291X), was detected in sporadic patient 2. The frameshift mutation we identified has not previously been reported either in China or abroad. Conclusions Although PAX6 mutations and polymorphisms have been reported in various ethnic groups, we report, for the first time, the identification of one new PAX6 mutation in Chinese aniridia patient.
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影响因子：
30.8
作者：
Sisodiya, SM;Free, SL;van Heyningen, V
通讯作者：
van Heyningen, V
DOI：
10.1007/s12098-009-0075-4
发表时间：
2009-04
期刊：
The Indian Journal of Pediatrics
影响因子：
--
作者：
G. Neethirajan;Abraham Solomon;S. Krishnadas;P. Vijayalakshmi;Periasamy Sundaresan
通讯作者：
G. Neethirajan;Abraham Solomon;S. Krishnadas;P. Vijayalakshmi;Periasamy Sundaresan
影响因子：
1.2
作者：
Xueshan Xiao;Shi-qiang Li;Qingjiong Zhang
通讯作者：
Xueshan Xiao;Shi-qiang Li;Qingjiong Zhang
影响因子：
3.4
作者：
Eden, Ulla;Iggman, David;Tornqvist, Kristina
通讯作者：
Tornqvist, Kristina
影响因子：
0.6
作者：
M. Starčević;M. Mataija
通讯作者：
M. Starčević;M. Mataija