A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly

Clin Genet. 2008 Nov;74(5):476-80. doi: 10.1111/j.1399-0004.2008.01025.x. Epub 2008 May 21.


Peters anomaly and Axenfeld-Rieger syndrome (ARS) belong to the overlapping spectrum of disorders summarized as anterior segment dysgenesis (ASD). Five patients from a family with Peters' anomaly and ARS were screened for mutations in the PITX2, CYP1B1 and FOXC1 genes by direct sequencing. All affected family members examined were heterozygous for a single nucleotide substitution, resulting in a nonsense mutation (Q120X) at a highly conserved residue of the FOXC1 gene that is essential for DNA binding. In this pedigree, all affected family members were diagnosed with ARS except for one who shows bilateral Peters' anomaly. Our findings support the role of FOXC1 mutations in the spectrum of ASD.

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Anterior Eye Segment / abnormalities*
  • Aryl Hydrocarbon Hydroxylases
  • Base Sequence
  • Cytochrome P-450 CYP1B1
  • Cytochrome P-450 Enzyme System / genetics
  • DNA Mutational Analysis
  • Eye Abnormalities / genetics*
  • Family
  • Forkhead Transcription Factors / genetics*
  • Homeobox Protein PITX2
  • Homeodomain Proteins / genetics
  • Humans
  • Iris / abnormalities
  • Molecular Sequence Data
  • Mutation*
  • Pedigree
  • Point Mutation
  • Syndrome
  • Transcription Factors / genetics


  • FOXC1 protein, human
  • Forkhead Transcription Factors
  • Homeodomain Proteins
  • Transcription Factors
  • Cytochrome P-450 Enzyme System
  • Aryl Hydrocarbon Hydroxylases
  • CYP1B1 protein, human
  • Cytochrome P-450 CYP1B1