[Identification of a novel PAX6 mutation in a family with congenital aniridia].
OBJECTIVE
To detect potential mutation in a Chinese family where two individuals were affected with hereditary congenital aniridia.


METHODS
Peripheral 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.


RESULTS
In 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.


CONCLUSIONS
A c.957-958delCA mutation of PAX6 gene is probably the cause of aniridia in this Chinese family.
Centre for Laboratory Medicine, The First Affiliated Hospital of Lanzhou University, Lanzhou, Gansu 730000, P. R. China. Email: lg196907@163.com.
Juan
J
Li
Li
L
Zhao
Xiao-jing
XJ
Cai
Li
L
Lu
Gang
G
Li
D000328:Adult; D015783:Aniridia / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002648:Child; D005091:Exons; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics*; D010375:Pedigree; D012097:Repressor Proteins / Q000235:genetics*; D017384:Sequence Deletion
D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins