title: [A novel mutation of the PAX6 gene in a Chinese family with aniridia].
abstract: OBJECTIVE
  The PAX6 gene encodes a transcriptional regulator involved in oculogenesis and other developmental processes such as aniridia, a congenital condition characterized by the underdevelopment of the iris of eyes. The function of the PAX6 gene in these two conditions is still poorly defined. The purpose of this study is to identify the mutation of the PAX6 gene in a Chinese family with aniridia.
  
  
  METHODS
  Two aniridia patients collected from the family underwent full ophthalmologic examination. Genomic DNA was prepared from venous leukocytes of the two patients and five healthy individuals in the family, and 100 unrelated healthycontrols. Exons 4-13 and their immediate flanking sequences of the PAX6 gene was analyzed by PCR amplification, direct sequencing, and single-strand conformation polymorphism(SSCP).
  
  
  RESULTS
  The sequencing result revealed a novel PAX6 mutation in the two patients. It was a heterozygous mutation (IVS10+1G>A) at the boundary of exon 10 and intron 10. The mutation was also detected by SSCP analysis. It was not detected in the healthy relatives and unrelated controls.
  
  
  CONCLUSIONS
  Aniridia is an autosomal dominant inheritable disease. A novel PAX6 gene mutation has been identified in the Northeastern Chinese family with aniridia. The genetic analysis suggested that this novel mutation in the PAX6 gene is capable of causing the classic aniridia phenotype.
authors.affiliation: Department of Ophthalmology, the First Affiliated Hospital, Harbin Medical University, Harbin, Heilongjiang, 150001 PR China. kangyangfirst@yahoo.com.cn
authors.forename: Yang
authors.initials: Y
authors.lastname: Kang
authors.forename: Hui-ping
authors.initials: HP
authors.lastname: Yuan
authors.forename: Xue
authors.initials: X
authors.lastname: Li
authors.forename: Qing-jun
authors.initials: QJ
authors.lastname: Li
authors.forename: Qiong
authors.initials: Q
authors.lastname: Wu
authors.forename: Qi
authors.initials: Q
authors.lastname: Hu
mesh_terms: D015783:Aniridia / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D005124:Eye Abnormalities / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D006579:Heterozygote; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D009154:Mutation; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics*; D010375:Pedigree; 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