Identification of a novel PAX6 mutation in a sporadic case with congenital aniridia.
10.3760/cma.j.issn.1003-9406.2019.06.022
- Author:
Chuan ZHANG
1
;
Shengju HAO
1
;
Qinghua ZHANG
1
;
Bingbo ZHOU
1
;
Furong LIU
1
;
Xiaojuan LIN
1
;
Yousheng YAN
2
Author Information
1. Gansu Provincial Key Laboratory of Birth Defects Prevention and Control, Gansu Provincial Maternal and Child Health Care Hospital, Lanzhou, Gansu 730050, China. Email: zhangchuan0404@163.com.
2. National Research Institute for Family Planning, Beijing 100081, China.
- Publication Type:Case Reports
- MeSH:
Aniridia;
genetics;
Base Sequence;
Humans;
Mutation;
PAX6 Transcription Factor;
genetics;
Pedigree
- From:
Chinese Journal of Medical Genetics
2019;36(6):616-619
- CountryChina
- Language:Chinese
-
Abstract:
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.
