A novel PAX6 gene mutation in a Chinese family with aniridia.
OBJECTIVE
The PAX6 gene mutation in aniridia has been studied in various ethnic patients, but not well studied in the Chinese population. In the present study, we have investigated the PAX6 gene mutation in a Chinese family with congenital aniridia.


METHODS
Total genomic DNA was isolated from peripheral blood of three aniridia patients (who also suffered from bilateral congenital cataracts) and two non-carriers in a Chinese family. Fourteen exons of the PAX6 gene were amplified by polymerase chain reaction (PCR). PCR products of each exon were analyzed by single strand conformational polymorphism (SSCP). The PCR products with abnormal SSCP patterns were subcloned and sequenced to identify the mutation.


RESULTS
Abnormal SSCP patterns were found in all affected patients but not in non-carrier family members. A novel mutation (c.857delG) in exon 7 was detected by sequencing analysis. This frame shift mutation was predicted to lead to a pre-stop codon in exon 8, and generate a novel 40 amino acid peptide from codon 165.


CONCLUSIONS
A novel PAX6 gene mutation was identified in a Chinese aniridia family. This mutation may also contribute to congenital cataracts in these aniridia patients.
Song
Shujuan
S
Peking University Stem Cell Research Center, Beijing, China.
Liu
Yingzhi
Y
Guo
Shuhua
S
Zhang
Lirong
L
Zhang
Xiaoyan
X
Wang
Shuling
S
Lu
Aili
A
Li
Lingsong
L
D000328:Adult; D015783:Aniridia / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D002386:Cataract / Q000235:genetics; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012097:Repressor Proteins / Q000235:genetics*; D017422:Sequence Analysis, DNA
D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins