Missense mutation at the C terminus of the PAX6 gene in ocular anterior segment anomalies.
OBJECTIVE
To report a rare case of ocular anterior segment anomalies including uveal ectropion of the iris, invasion of the conjunctival epithelia into the cornea, and posterior embryotoxon with a missense mutation of the PAX6 gene.


METHODS
The authors performed polymerase chain reaction-single-strand conformation polymorphism analysis and sequencing of the PAX6 gene using genomic DNA of family members and more than 100 control subjects.


RESULTS
The A to G transition at nucleotide 1682 in exon 13 in the patient was identified in an allele that resulted in a Gln to Arg substitution (Q422R) at the C terminus of the protein. The mutation was not found in the parents, a sibling, or control subjects.


CONCLUSIONS
The mutation indicates that the proline-serine-threonine-rich domain at the C terminus of the PAX6 protein plays a role in ocular anterior segment morphogenesis.
Azuma
N
N
Department of Ophthalmology, National Children's Hospital, Tokyo, Japan.
Yamada
M
M
D000869:Anterior Eye Segment / Q000002:abnormalities* / Q000473:pathology; D002648:Child; D004247:DNA / Q000032:analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005124:Eye Abnormalities / Q000235:genetics* / Q000473:pathology; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D018398:Homeodomain Proteins; D006801:Humans; D016366:Open Reading Frames / Q000235:genetics; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012097:Repressor Proteins; D014157:Transcription Factors / Q000235:genetics
D004268:DNA-Binding Proteins; D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins; D014157:Transcription Factors; D004247:DNA