title: PAX6 gene analysis in irido-fundal coloboma.
abstract: OBJECTIVE
  To screen the paired box gene 6 (PAX6) gene in irido-fundal coloboma.
  
  
  METHODS
  The entire coding region of PAX6 including intron-exon boundaries was amplified from cases (n=30) and controls (n=30). All sequences were analyzed against the ensemble sequence (ENSG00000007372) for PAX6.
  
  
  RESULTS
  DNA sequence analysis of patients and controls revealed a total of three nucleotide changes (g.31815391Cytosine>Thymine; Glycine72Glycine and g.31812215Thymine>Guanine) of which one was neutral/synonymous change and the remaining two were intronic changes. Of these 3 changes, 2 were novel and one was already reported change. All these changes were non-pathogenic, according to in silico analysis.
  
  
  CONCLUSIONS
  In our study no pathogenic PAX6 mutation were identified. This suggests involvement of other coloboma genes. This study expands the SNP spectrum of PAX6, only rare variations which are not causative have been found. Since this is a pilot study in the north Indian population, results should be confirmed in different populations by similar studies. Familial cases are required for determining the underlying genetic loci accounting for this clinical phenotype and may lead to better understanding of disease pathogenesis.
authors.affiliation: Department of Anatomy, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India.
authors.forename: Kishlay
authors.initials: K
authors.lastname: Kumar
authors.forename: Mukesh
authors.initials: M
authors.lastname: Tanwar
authors.forename: Prashant
authors.initials: P
authors.lastname: Naithani
authors.forename: Rajpal
authors.initials: R
authors.lastname: Insaan
authors.forename: Satpal
authors.initials: S
authors.lastname: Garg
authors.forename: Pradeep
authors.initials: P
authors.lastname: Venkatesh
authors.forename: Rima
authors.initials: R
authors.lastname: Dada
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D003103:Coloboma / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005654:Fundus Oculi; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007194:India; D007438:Introns; D007498:Iris / Q000002:abnormalities*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics*; D012097:Repressor Proteins / 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