Analysis of PAX6 gene mutations in a Chinese family affected with congenital aniridia.

Author: Jing CHEN ^{1
,

2} ; Jianfang ZHU
Author Information

1. Department of Pediatric Rheumatology and Immunology, Wuhan Women and Children's Health Center, Wuhan, Hubei 430015, China
2. Central Laboratory, Union Hospital Affiliated to Tongji Medical College, Hua Zhong University of Science and Technology, Wuhan, Hubei 430022, China. Email: ZJF1662003@aliyun.com.
Publication Type:Journal Article
MeSH: Aniridia; genetics; Eye Proteins; genetics; Female; Homeodomain Proteins; genetics; Humans; Male; Mutation; PAX6 Transcription Factor; Paired Box Transcription Factors; genetics; Repressor Proteins; genetics
From: Chinese Journal of Medical Genetics 2016;33(4):523-525
CountryChina
Language:Chinese
Abstract:
OBJECTIVETo investigate the mutation of PAX6 gene in a Chinese family affected with congenital aniridia.
METHODSBlood samples were drawn from family members, and DNA was analyzed by direct sequencing.
RESULTSA heterozygous mutation (c.151 G>A) was identified in the PAX6 gene in the proband and other patients from the family. The same mutation was not found among unaffected family members and 160 unrelated healthy controls.
CONCLUSIONA novel mutation in the PAX6 gene has been identified in a Chinese family affected with aniridia.