title: Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma.
abstract: OBJECTIVE
  To investigate whether 173 patients with microphthalmia, anophthalmia, and coloboma have mutations in the eye-development gene SIX6.
  
  
  METHODS
  The two exons of the SIX6 gene were amplified by PCR from patients' genomic DNA and directly sequenced to search for mutations. The PCR products of 75 patients were also analyzed by denaturing high-performance liquid chromatography (DHPLC).
  
  
  RESULTS
  Six SIX6 polymorphisms were identified in the patient panel. Three of these polymorphisms change the encoded amino acid. However, all six polymorphisms were also identified in unaffected individuals. There was no statistically significant difference in genotypes between patients and control subjects.
  
  
  CONCLUSIONS
  No evidence was found that SIX6 mutations underlie human congenital structural eye malformations.
authors.affiliation: Institute of Ophthalmology, University College London, United Kingdom.
authors.forename: Saima
authors.initials: S
authors.lastname: Aijaz
authors.forename: Brian J
authors.initials: BJ
authors.lastname: Clark
authors.forename: Kathleen
authors.initials: K
authors.lastname: Williamson
authors.forename: Veronica
authors.initials: V
authors.lastname: van Heyningen
authors.forename: Danny
authors.initials: D
authors.lastname: Morrison
authors.forename: David
authors.initials: D
authors.lastname: Fitzpatrick
authors.forename: Richard
authors.initials: R
authors.lastname: Collin
authors.forename: Nicola
authors.initials: N
authors.lastname: Ragge
authors.forename: Andrea
authors.initials: A
authors.lastname: Christoforou
authors.forename: Alison
authors.initials: A
authors.lastname: Brown
authors.forename: Isabel
authors.initials: I
authors.lastname: Hanson
mesh_terms: D000328:Adult; D000853:Anophthalmos / Q000235:genetics*; D002851:Chromatography, High Pressure Liquid; D003103:Coloboma / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D005784:Gene Amplification; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008850:Microphthalmos / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA; D015534:Trans-Activators / Q000235:genetics*
chemical_list: D005136:Eye Proteins; D018398:Homeodomain Proteins; C491945:SIX6 protein, human; D015534:Trans-Activators