Expert Reviews in Molecular Medicine: http://www.expertreviews.org/
DOI: 10.1017/S1462399405010082; 8 November 2005
Tord A. Hjalt and Elena V. Semina (2005) Current molecular understanding of Axenfeld–Rieger syndrome.
Expert Rev. Mol. Med. Vol. 7, Issue 25, DOI: 10.1017/S1462399405010082

Current molecular understanding of Axenfeld–Rieger syndrome

Tord A. Hjalt and Elena V. Semina

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Axenfeld–Rieger syndrome (ARS) is a rare autosomal dominant inherited disorder affecting the development of the eyes, teeth and abdomen. The syndrome is characterised by complete penetrance but variable expressivity. The ocular component of the ARS phenotype has acquired most clinical attention and has been dissected into a spectrum of developmental eye disorders, of which open-angle glaucoma represents the main challenge in terms of treatment. Mutations in several chromosomal loci have been implicated in ARS, including PITX2, FOXC1 and PAX6. Full-spectrum ARS is caused primarily by mutations in the PITX2 gene. The homeobox transcription factor PITX2 is produced as at least four different transcriptional and splicing isoforms, with different biological properties. Intriguingly, PITX2 is also involved in left–right polarity determination, although asymmetry defects are not a feature of ARS. In experimental animal models and in cell culture experiments using PITX2, abundant evidence indicates that a narrow window of expression level of this gene is vital for its correct function.

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Figure 1. Some clinical manifestations of Axenfeld–Rieger syndrome.
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Figure 2. Some ocular phenotypes of Axenfeld–Rieger syndrome.
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Figure 3. Isoforms of PITX2.
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Figure 4. Upstream regulatory pathways of Pitx2.
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Table 1. Summary of Axenfeld–Rieger syndrome phenotypes associated with nondeletion mutations in specific genes.
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Table 2. Some proposed target genes of PITX2.
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