title: A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly.
abstract: 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.
authors.affiliation: Molecular Genetics Laboratory, Institute for Ophthalmic Research, University Clinics Tuebingen, Tuebingen, Germany. nicole.weisschuh@uni-tuebingen.de
authors.forename: N
authors.initials: N
authors.lastname: Weisschuh
authors.forename: C
authors.initials: C
authors.lastname: Wolf
authors.forename: B
authors.initials: B
authors.lastname: Wissinger
authors.forename: E
authors.initials: E
authors.lastname: Gramer
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000869:Anterior Eye Segment / Q000002:abnormalities*; D001189:Aryl Hydrocarbon Hydroxylases; D001483:Base Sequence; D065633:Cytochrome P-450 CYP1B1; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics; D004252:DNA Mutational Analysis; D005124:Eye Abnormalities / Q000235:genetics*; D005190:Family; D051858:Forkhead Transcription Factors / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007498:Iris / Q000002:abnormalities; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D017354:Point Mutation; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics; D000097577:Homeobox Protein PITX2
chemical_list: D001189:Aryl Hydrocarbon Hydroxylases; D065633:Cytochrome P-450 CYP1B1; D003577:Cytochrome P-450 Enzyme System; D051858:Forkhead Transcription Factors; D018398:Homeodomain Proteins; D014157:Transcription Factors; D000097577:Homeobox Protein PITX2; C112743:FOXC1 protein, human; C585496:CYP1B1 protein, human