title: A novel PAX6 mutation in Chinese patients with severe congenital aniridia.
abstract: OBJECTIVE
  We identified a novel mutation in Paired Box gene 6 (PAX6) and characterized its associated clinical features of severe ocular malformation in a Chinese family with congenital aniridia.
  
  
  METHODS
  We studied two patients with aniridia from a Chinese family. All patients and noncarriers in this family underwent full ophthalmologic, general and urinary examinations. Total genomic DNA was isolated from peripheral blood of two aniridia patients. PAX6 levels were determined by PCR and its mutational status was determined by sequencing. Direct sequencing detected variations in PAX6.
  
  
  RESULTS
  Patients had bilateral congenital nystagmus, anterior polar cataract, absence of iris tissue, and foveal hypoplasia with severely reduced visual acuity. A novel heterozygous PAX6 mutation in exon 6 c.662G>A (p.W100X) was identified which created a premature termination codon. This observed sequence alteration was not found in 100 normal controls and has not been previously reported.
  
  
  CONCLUSIONS
  We identified a novel PAX6 mutation in a family with severe ocular malformation. Our study expands the mutational spectrum of PAX6 and enriches our knowledge of the relationship between genotype and phenotype due to these mutations.
authors.affiliation: Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmic and Visual Science Key Laboratory, Beijing, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: He
authors.forename: Zhiqiang
authors.initials: Z
authors.lastname: Pan
authors.forename: Fei
authors.initials: F
authors.lastname: Luo
mesh_terms: D015783:Aniridia / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D002386:Cataract / Q000151:congenital / Q000235:genetics; D018389:Codon, Nonsense / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D005192:Family Health; D005260:Female; D005584:Fovea Centralis / Q000002:abnormalities; D006579:Heterozygote; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009759:Nystagmus, Pathologic / Q000151:congenital / Q000235:genetics; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics*; D010375:Pedigree; D012097:Repressor Proteins / Q000235:genetics*; D012720:Severity of Illness Index; D055815:Young Adult
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