Identification of a novel PAX6 mutation in a sporadic case with congenital aniridia.

VernacularTitle:PAX6基因新突变导致先天性无虹膜一例
Author: Chuan ZHANG ^{1
,

2} ; Shengju HAO ^{1
,

2} ; Qinghua ZHANG ^{1
,

2} ; Bingbo ZHOU ^{1
,

2} ; Furong LIU ^{1
,

2} ; Xiaojuan LIN ^{1
,

2} ; Yousheng YAN ³
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@
2. com.
3. 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.