title: Mutation analysis of PAX6 in a Chinese family and a patient with a presumed sporadic case of congenital aniridia.
abstract: OBJECTIVE
  Mutations in the PAX6 are the major cause of congenital aniridia. The objective of this study was to analyze genetic mutations in PAX6 in Chinese patients with congenital aniridia.
  
  
  METHODS
  Total genomic DNA was isolated from the peripheral blood of the aniridia patients, all healthy family members and 100 healthy volunteers. The 14 exons (including alternatively spliced exon 5a) of the PAX6 gene were amplified by polymerase chain reaction, and the products were sequenced to identify the mutation.
  
  
  RESULTS
  Two mutations of PAX6 were detected in exon 11 in the congenital aniridia patients. One mutation was caused by the duplication of the 4 nucleic acids CTCC (c.1286insCTCC), which would lead to a frameshift. The other mutation was caused by a transition from C to T (c.1311C → T), which would generate a stop codon. Neither mutation was present in the healthy family members or 100 healthy volunteers.
  
  
  CONCLUSIONS
  We examined the exon sequence of the PAX6 gene in a Chinese family and an unrelated individual with aniridia. The predicted outcome of both mutations is premature termination. The mutation found in the unrelated individual has not previously been reported and represents a new addition to the spectrum of mutations in PAX6.
authors.affiliation: Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Science Key Laboratory, Beijing, China.
authors.forename: Fei
authors.initials: F
authors.lastname: Luo
authors.forename: Linlin
authors.initials: L
authors.lastname: Zhou
authors.forename: Xu
authors.initials: X
authors.lastname: Ma
authors.forename: Yan
authors.initials: Y
authors.lastname: He
authors.forename: Liuhe
authors.initials: L
authors.lastname: Zou
authors.forename: Ying
authors.initials: Y
authors.lastname: Jie
authors.forename: Jing
authors.initials: J
authors.lastname: Liu
authors.forename: Zhiqiang
authors.initials: Z
authors.lastname: Pan
mesh_terms: D015783:Aniridia / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002675:Child, Preschool; D018388:Codon, Terminator; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012097:Repressor Proteins / Q000235:genetics*
chemical_list: D018388:Codon, Terminator; D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins