title: Three novel PAX6 mutations in patients with aniridia.
abstract: OBJECTIVE
  To describe mutations in the PAX6 gene in five patients with aniridia from three unrelated families.
  
  
  METHODS
  The PAX6 gene was analysed using single stranded conformational polymorphism analysis and direct sequencing.
  
  
  RESULTS
  In one family, three individuals from two generations had aniridia, whereas in each of the other families only one member was affected. The first patient had the heterozygous Q221X (1023C --> T) nonsense mutation in exon 8. The same mutation was found in his mother and sister. Another patient had a heterozygous Q297X (1252C --> T) mutation in exon 10. The third patient carried a heterozygous IVS5+2T --> C mutation leading to aberrant splicing of mRNA.
  
  
  CONCLUSIONS
  These findings provide further examples of haploinsufficiency of PAX6 in aniridia.
authors.affiliation: Department of Paediatrics, Martin-Luther-University, University Hospital, Ernst-Grube-Str. 40, 06097 Halle/Saale, Germany. walter.zumkeller@medizin.uni-halle.de
authors.forename: W
authors.initials: W
authors.lastname: Zumkeller
authors.forename: U
authors.initials: U
authors.lastname: Orth
authors.forename: A
authors.initials: A
authors.lastname: Gal
mesh_terms: D015783:Aniridia / Q000235:genetics*; D001483:Base Sequence; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors; D018807:Polymorphism, Single-Stranded Conformational; D012097:Repressor Proteins
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