title: The PITX3 gene in posterior polar congenital cataract in Australia.
abstract: OBJECTIVE
  Congenital cataract is a significant cause of blindness worldwide. Many genes are known to cause the disorder. A large multigenerational pedigree was investigated for the genetic cause of a posterior polar autosomal dominant congenital cataract.
  
  
  METHODS
  A genome wide scan was conducted in a large multigenerational family with autosomal dominant cataract to identify the linked region of the genome. The PITX3 gene was investigated through direct sequencing and detection of fluorescently labeled PCR products.
  
  
  RESULTS
  Linkage was detected to a region of chromosome 10q23-26 which contains the candidate gene PITX3. A segregating 17 bp insertion mutation was identified. This mutation was not identified in 100 additional unrelated sporadic and familial congenital cataract patients. No mutations of the PITX3 gene were identified in 9 families with posterior polar congenital cataract.
  
  
  CONCLUSIONS
  The 657ins17bp duplication of the PITX3 gene is the cause of the cataract phenotype in the large pedigree, however, this gene appears responsible for only a small proportion of congenital cataract in Australia.
authors.affiliation: Department of Ophthalmology, Flinders University, Bedford Park, South Australia, Australia. kathryn.burdon@flinders.edu.au
authors.forename: Kathryn P
authors.initials: KP
authors.lastname: Burdon
authors.forename: James D
authors.initials: JD
authors.lastname: McKay
authors.forename: M Gabriela
authors.initials: MG
authors.lastname: Wirth
authors.forename: Isabelle M
authors.initials: IM
authors.lastname: Russell-Eggit
authors.forename: Samira
authors.initials: S
authors.lastname: Bhatti
authors.forename: Jonathan B
authors.initials: JB
authors.lastname: Ruddle
authors.forename: David
authors.initials: D
authors.lastname: Dimasi
authors.forename: David A
authors.initials: DA
authors.lastname: Mackey
authors.forename: Jamie E
authors.initials: JE
authors.lastname: Craig
mesh_terms: D001315:Australia; D002386:Cataract / Q000151:congenital* / Q000235:genetics*; D020090:Chromosome Segregation; D002879:Chromosomes, Human, Pair 10; D004251:DNA Transposable Elements; D005260:Female; D008040:Genetic Linkage; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree; D012091:Repetitive Sequences, Nucleic Acid; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D004251:DNA Transposable Elements; D018398:Homeodomain Proteins; D014157:Transcription Factors; C433629:homeobox protein PITX3