title: [Analysis of PAX6 gene mutations in a Chinese family affected with congenital aniridia].
abstract: OBJECTIVE
  To investigate the mutation of PAX6 gene in a Chinese family affected with congenital aniridia.
  
  
  METHODS
  Blood samples were drawn from family members, and DNA was analyzed by direct sequencing.
  
  
  RESULTS
  A heterozygous mutation (c.151 G>A) was identified in the PAX6 gene in the proband and other patients from the family. The same mutation was not found among unaffected family members and 160 unrelated healthy controls.
  
  
  CONCLUSIONS
  A novel mutation in the PAX6 gene has been identified in a Chinese family affected with aniridia.
authors.affiliation: Department of Pediatric Rheumatology and Immunology, Wuhan Women and Children's Health Center, Wuhan, Hubei 430015, China; Central Laboratory, Union Hospital Affiliated to Tongji Medical College, Hua Zhong University of Science and Technology, Wuhan, Hubei 430022, China. Email: ZJF1662003@aliyun.com.
authors.forename: Jing
authors.initials: J
authors.lastname: Chen
authors.forename: Jianfang
authors.initials: J
authors.lastname: Zhu
mesh_terms: D015783:Aniridia / 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*; 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