title: A novel PITX2 mutation in a Chinese family with Axenfeld-Rieger syndrome.
abstract: OBJECTIVE
  Axenfeld-Rieger syndrome (ARS) is an autosomal dominant disorder characterized by extraocular anomalies and developmental defects of the anterior segment. PITX2 (paired-like homeodomain transcription factor 2) is considered the major causative gene. In this study, we characterized the molecular defect in PITX2 in a Chinese family with ARS.
  
  
  METHODS
  Two generations of the family with ARS were enrolled in the present study. In addition to ophthalmologic examinations, polymerase chain reaction (PCR) amplification and nucleotide sequencing of all coding exons of PITX2 were performed. Exon 5 (region 1) was also sequenced in 100 healthy controls unrelated to the family for comparison.
  
  
  RESULTS
  A novel PITX2 mutation, c.840G>T, was identified in all affected members of the family with ARS that causes an amino acid substitution from tryptophan to cysteine at codon 86.
  
  
  CONCLUSIONS
  We found a novel p.W86C mutation in PITX2 in a Chinese family with ARS. The tryptophan residue at position 86 is strictly conserved in PITX2a proteins from several species and in homeodomain proteins. We suggest that this mutation in PITX2 is the cause of typical ARS in patients. Our results may be useful for better understanding of the spectrum of PITX2 mutations and the role of PITX2 in the development and progression of ARS.
authors.affiliation: Department of Ophthalmology, Harbin Medical University, the Fourth Affiliated Hospital, Harbin, Heilongjiang, China.
authors.forename: Dandan
authors.initials: D
authors.lastname: Li
authors.forename: Qingguo
authors.initials: Q
authors.lastname: Zhu
authors.forename: Hui
authors.initials: H
authors.lastname: Lin
authors.forename: Nan
authors.initials: N
authors.lastname: Zhou
authors.forename: Yanhua
authors.initials: Y
authors.lastname: Qi
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002681:China; D004252:DNA Mutational Analysis; D005124:Eye Abnormalities / Q000235:genetics* / Q000473:pathology; D005190:Family; D005260:Female; D018398:Homeodomain Proteins / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D016415:Sequence Alignment; D013577:Syndrome; D014157:Transcription Factors / Q000737:chemistry / Q000235:genetics*; D000097577:Homeobox Protein PITX2
chemical_list: D018398:Homeodomain Proteins; D014157:Transcription Factors; D000097577:Homeobox Protein PITX2