title: [A novel mutation of the PAX6 gene identified in a northeastern Chinese family with congenital aniridia].
abstract: OBJECTIVE
  To identify the mutation of the PAX6 gene in a northeastern Chinese family with aniridia.
  
  
  METHODS
  Three aniridia patients from the family were undergone full ophthalmologic examinations. Genomic DNA was prepared from venous leukocytes from these three patients, five non-carriers in the family as well as 100 healthy normal controls. The coding regions of PAX6 gene were analyzed by PCR amplification, single-strand conformation polymorphism and direct DNA sequencing.
  
  
  RESULTS
  The sequencing result revealed one novel PAX6 mutation in the three patients with familial aniridia. The mutation is a 9 base pair(bp) deletion in exon 5 (c.483del9) that results in a putative PAX6 protein with in-frame deletions of aspartic acid, isoleucine and serine at the amino acids 41-43.
  
  
  CONCLUSIONS
  A PAX6 gene mutation beyond the existing spectrum of mutations has been identified in a northeastern Chinese family with aniridia. The genetic analysis suggests that the novel mutation in the PAX6 gene may be the cause of the classical aniridia phenotype.
authors.affiliation: Department of Ophthalmology, the Second Affiliated Hospital, Harbin Medical University, Harbin, Heilongjiang, 150086 P. R. China.
authors.forename: Yang
authors.initials: Y
authors.lastname: Kang
authors.forename: Hui-ping
authors.initials: HP
authors.lastname: Yuan
authors.forename: Yuan-yuan
authors.initials: YY
authors.lastname: Li
mesh_terms: D015783:Aniridia / Q000235:genetics*; D044466:Asian People; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational / 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