title: Mutation analysis of PAX6 in inherited and sporadic aniridia from northeastern China.
abstract: OBJECTIVE
  Haplo-insufficiency at the paired box gene 6 (PAX6) locus causes aniridia,which is characterized by iris hypoplasia and other anterior and posterior eye defects leading to poor vision. This study aimed to identify novel PAX6 mutations that lead to familial and sporadic aniridia in northeastern China.
  
  
  METHODS
  Two aniridia patients from a family and a sporadic patient underwent full ophthalmologic examinations. Genomic DNA was isolated from the affected individuals, 5 noncarriers in the family and 100 healthy normal controls. The coding regions and the adjacent intronic sequence of PAX6 were amplified by polymerase chain reaction (PCR) and direct bidirectional sequencing.
  
  
  RESULTS
  A nonsense mutation in exon 9 (c.718C>T) was identified in the patients but not in any other unaffected families. A C>T substitution at codon 240 converts an arginine codon (CGA) to a termination codon (TGA).The same mutation was detected in the sporadic patient by chance.
  
  
  CONCLUSIONS
  A mutation in the PAX6 gene was confirmed to be capable of causing the classic aniridia phenotype. This is the first report on the "hotspot" c.718C>T transition from northeastern Chinese families.
authors: Department of Ophthalmology, First Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang, China.
authors: Yang
authors: Y
authors: Kang
authors: Ying
authors: Y
authors: Lin
authors: Xue
authors: X
authors: Li
authors: Qiong
authors: Q
authors: Wu
authors: Lei
authors: L
authors: Huang
authors: Qingjun
authors: Q
authors: Li
authors: Qi
authors: Q
authors: Hu
mesh_terms: D000328:Adult; D015783:Aniridia / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D016022:Case-Control Studies; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005091:Exons; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005838:Genotype; D057895:Haploinsufficiency; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007438:Introns; D008297:Male; D008969:Molecular Sequence Data; D016366:Open Reading Frames; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics*; D010641:Phenotype; D012097:Repressor Proteins / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins