PAX 6 is normal in most cases of Peters' anomaly.
Mutations in the PAX 6 gene are known to cause many cases of inherited and sporadic aniridia. Although embryologically similar to aniridia, the cause of Peters' anomaly has received far less attention. Two reports have been published demonstrating mutations in the PAX 6 gene in Peters' anomaly. We have analysed the PAX 6 gene in 15 individuals with Peters' anomaly (7 familial, 8 sporadic). This is the largest cohort of Peters' anomaly described. The PAX 6 gene was screened using a combination of single-strand conformational polymorphism gel electrophoresis and direct sequencing. No mutations were found in the coding region of the PAX 6 gene. We feel that Peters' anomaly is a heterogeneous condition and that for the majority of cases PAX 6 is not the 'Peters' anomaly gene'.
Churchill
A J
AJ
Department of Molecular Medicine and Ophthalmology, St James's University Hospital, Leeds, UK.
Booth
A P
AP
Anwar
R
R
Markham
A F
AF
D000869:Anterior Eye Segment / Q000002:abnormalities*; D003318:Corneal Opacity / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D005136:Eye Proteins; D005260:Female; D018398:Homeodomain Proteins; D006801:Humans; D008297:Male; D009154:Mutation; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012097:Repressor Proteins
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