title: Run-on mutation in the PAX6 gene and chorioretinal degeneration in autosomal dominant aniridia.
abstract: OBJECTIVE
  To identify the causative paired box 6 (PAX6) mutation in a family with autosomal dominant aniridia.
  
  
  METHODS
  A family with autosomal dominant aniridia with three affected individuals in two generations was investigated for the causative PAX6 mutation by single strand conformation polymorphism (SSCP) followed by sequencing of genomic DNA from peripheral blood.
  
  
  RESULTS
  A novel PAX6 mutation in the donor splice site of intron 12 was identified in all three affected individuals from the family. The automated splice site analysis web interface indicated a disturbance of splicing and it was predicted that this mutation could lead to an elimination of the normal stop codon and an abnormal 3' elongation of the mRNA.
  
  
  CONCLUSIONS
  We report a novel PAX6 mutation in autosomal dominant aniridia that presumably affects splicing. The presence of chorioretinal degeneration in one of the affected individual raises the possibility that run-on mutations are associated with chorioretinal involvement in aniridia.
authors.affiliation: Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
authors.forename: Shagun
authors.initials: S
authors.lastname: Aggarwal
authors.forename: Worapoj
authors.initials: W
authors.lastname: Jinda
authors.forename: Chanin
authors.initials: C
authors.lastname: Limwongse
authors.forename: La-ongsri
authors.initials: LO
authors.lastname: Atchaneeyasakul
authors.forename: Shubha R
authors.initials: SR
authors.lastname: Phadke
mesh_terms: D000293:Adolescent; D015783:Aniridia / Q000235:genetics*; D015862:Choroid Diseases / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D005799:Genes, Dominant; D006579:Heterozygote; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007438:Introns; D008297:Male; D008875:Middle Aged; D009154:Mutation; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics*; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D012097:Repressor Proteins / Q000235:genetics*; D012162:Retinal Degeneration / Q000235:genetics*; D017422:Sequence Analysis, DNA; D055815:Young Adult
chemical_list: D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins