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A novel mutation in the FOXC1 gene in a family with Axenfeld–Rieger syndrome and Peters’ anomaly
Article first published online: 21 MAY 2008
DOI: 10.1111/j.1399-0004.2008.01025.x
© 2008 The Authors Journal compilation © 2008 Blackwell Munksgaard
1399-0004/asset/cover.gif?v=1&s=8bada1cac0540098302efec87fd786c08663a2e3 "Clinical Genetics")
Additional Information
How to Cite
Weisschuh, N., Wolf, C., Wissinger, B. and Gramer, E. (2008), A novel mutation in the FOXC1 gene in a family with Axenfeld–Rieger syndrome and Peters’ anomaly. Clinical Genetics, 74: 476–480. doi: 10.1111/j.1399-0004.2008.01025.x
Publication History
- Issue published online: 13 OCT 2008
- Article first published online: 21 MAY 2008
- Received 19 November 2007, revised and accepted for publication 31 March 2008
- Abstract
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Keywords:
- Axenfeld–Rieger syndrome;
- FOXC1;
- mutation screening;
- Peters’ anomaly
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.