Zhang Chuan, Hao Shengju, Zhang Qinghua, Zhou Bingbo, Liu Furong, Lin Xiaojuan, Yan Yousheng
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.
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.
To identify mutation of the PAX6 gene in a patient with congenital aniridia.
DNA was extracted from peripheral blood sample of the patient and analyzed by direct PCR-Sanger sequencing.
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.
A novel mutation of the PAX6 gene has been identified in a sporadic case with congenital aniridia.
