Analysis of PAX6 gene mutation in a family affected with congenital aniridia.
- Author:
Yang KANG
1
;
Xue LI
;
Qiong WU
;
Wenyan ZHOU
;
Qingjun LI
;
Qi HU
Author Information
- Publication Type:Case Reports
- 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):519-522
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo identify potential mutation of the PAX6 gene in a family affected with congenital aniridia from northeastern China.
METHODSTwo patients were collected from the family and underwent full ophthalmologic examinations. Genomic DNA was extracted from all family numbers and 100 healthy controls. The coding regions and flanking sequence of the PAX6 gene were amplified by PCR amplification and subjected to bidirectional DNA sequencing.
RESULTSA nonsense mutation (c.718 C>T) was identified in exon 9 in both patients but not in other unaffected families or the 100 healthy controls. However, obvious difference was noted in the phenotype between the two patients. One of the patient has presented irregular cornea, which was infrequently reported.
CONCLUSIONA c.718C>T transitional mutation has been found to underlie the aniridia, which showed an autosomal dominant inheritance pattern in this northeastern Chinese family.
