Identification of a novel PAX6 mutation in a family with congenital aniridia.
- Author:
Juan LI
1
;
Li ZHAO
;
Xiao-jing CAI
;
Li LU
;
Gang LI
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Aniridia; genetics; Asian Continental Ancestry Group; genetics; Base Sequence; Child; Exons; Eye Proteins; genetics; Female; Homeodomain Proteins; genetics; Humans; Male; Molecular Sequence Data; PAX6 Transcription Factor; Paired Box Transcription Factors; genetics; Pedigree; Repressor Proteins; genetics; Sequence Deletion
- From: Chinese Journal of Medical Genetics 2013;30(5):579-581
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo detect potential mutation in a Chinese family where two individuals were affected with hereditary congenital aniridia.
METHODSPeripheral blood samples were taken for genomic DNA extraction. All of the 15 exons of PAX6 gene were amplified with PCR. The product were purified with gel electrophoresis and sequenced.
RESULTSIn both patients, a novel deletion mutation (c.957-958delCA) in exon 13 of the PAX6 gene was identified, which has produced a terminator codon. The same mutation was not found in healthy controls.
CONCLUSIONA c.957-958delCA mutation of PAX6 gene is probably the cause of aniridia in this Chinese family.
