title: A novel PAX6 gene mutation in an Indian aniridia patient.
abstract: OBJECTIVE
  A mutation in the PAX6 gene is thought to be the genetic cause of aniridia. Here we search for PAX6 gene mutations in Indian aniridia patients.
  
  
  METHODS
  We amplified the coding exons of the PAX6 gene from the genomic DNA of 15 unrelated aniridia patients using polymerase chain reaction technology. We then performed single-strand conformation polymorphism analysis and heteroduplex analysis to search for sequence variants.
  
  
  RESULTS
  Sequencing of shifted bands in two patients revealed PAX6 gene mutations. One of these was a novel mutation, 1180insA, located in exon 10 at the start of the PST domain. The other mutation, 1080C->T (R240X), located in exon 9 within the homeodomain, and is another example of the most commonly reported PAX6 mutation.
  
  
  CONCLUSIONS
  Although PAX6 gene mutations and polymorphisms have been reported from various ethnic groups, we report for the first time the identification of PAX6 gene mutations in Indian aniridia patients.
authors.affiliation: Department of Genetics, Aravind Medical Research Foundation, Madurai, India.
authors.forename: Guruswamy
authors.initials: G
authors.lastname: Neethirajan
authors.forename: Isabel M
authors.initials: IM
authors.lastname: Hanson
authors.forename: Subbiah Ramasamy
authors.initials: SR
authors.lastname: Krishnadas
authors.forename: Perumalsamy
authors.initials: P
authors.lastname: Vijayalakshmi
authors.forename: Kesavan
authors.initials: K
authors.lastname: Anupkumar
authors.forename: Periasamy
authors.initials: P
authors.lastname: Sundaresan
mesh_terms: D000293:Adolescent; D000595:Amino Acid Sequence; D015783:Aniridia / Q000208:ethnology / Q000235:genetics*; D002386:Cataract / Q000235:genetics; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D005901:Glaucoma / Q000235:genetics; D020180:Heteroduplex Analysis; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007194:India / Q000453:epidemiology; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009759:Nystagmus, Pathologic / Q000235:genetics; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012097:Repressor Proteins; D020539:Sequence Analysis, Protein; D014157:Transcription Factors / Q000235:genetics*
chemical_list: 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