A novel PAX6 mutation in a large Chinese family with aniridia and congenital cataract.
OBJECTIVE
To identify the disease-causing gene in a four-generation Chinese family affected with autosomal dominant aniridia and cataract.


METHODS
All patients underwent full ophthalmic examination. For mutation analysis, a partial coding region (exons 5-14) of paired box gene 6 (PAX6) was sequenced with DNA from the proband. Single-strand conformation polymorphism analysis for exon 5 of PAX6 was performed to demonstrate co-segregation of the PAX6 mutation with aniridia in all family members and the absence of the mutation in the normal controls.


RESULTS
The proband and other patients in the family were affected with aniridia accompanied with congenital cataract. A novel heterozygous PAX6 mutation in exon 5 (c.475_491del17, p.Arg38ProfsX12) was identified, which was predicted to generate a frameshift and create a premature termination codon. This mutation co-segregated with the affected individuals in the family and did not exist in unaffected family members and 100 unrelated normal controls.


CONCLUSIONS
A novel deletion mutation in the PAX6 gene was identified in a Chinese family with aniridia and congenital cataract. Our study expands the mutation spectrum of PAX6.
Cai
Fucheng
F
Pediatrics Department of Union Hospital, Huazhong University of Science and Technology, Wuhan, Hubei, China.
Zhu
Jianfang
J
Chen
Wen
W
Ke
Tie
T
Wang
Fang
F
Tu
Xin
X
Zhang
Ying
Y
Jin
Runming
R
Wu
Xiaoyan
X
D015783:Aniridia / Q000150:complications* / Q000235:genetics*; D000869:Anterior Eye Segment / Q000473:pathology; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002386:Cataract / Q000150:complications* / Q000151:congenital* / Q000235:genetics; D002681:China; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D005190:Family; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D018807:Polymorphism, Single-Stranded Conformational; D012097:Repressor Proteins / Q000235:genetics*
D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins