[Identification of a novel PAX6 mutation in a sporadic case with congenital aniridia].
作者信息
Zhang Chuan, Hao Shengju, Zhang Qinghua, Zhou Bingbo, Liu Furong, Lin Xiaojuan, Yan Yousheng
机构信息
Gansu Provincial Key Laboratory of Birth Defects Prevention and Control, Gansu Provincial Maternal and Child Health Care Hospital, Lanzhou, Gansu 730050, China. Email:
National Research Institute for Family Planning, Beijing 100081, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jun 10;36(6):616-619. doi: 10.3760/cma.j.issn.1003-9406.2019.06.022.
OBJECTIVE
To identify mutation of the PAX6 gene in a patient with congenital aniridia.
METHODS
DNA was extracted from peripheral blood sample of the patient and analyzed by direct PCR-Sanger sequencing.
RESULTS
The proband was found to harbor a heterozygous c.239T>A (p.Ile80Asn) mutation of the PAX6 gene. The same mutation was not found in his parents and 150 healthy controls.
CONCLUSION
A novel mutation of the PAX6 gene has been identified in a sporadic case with congenital aniridia.
Zotero 插件