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Current molecular understanding of Axenfeld-Rieger syndrome. Expert Rev Mol Med 2005 Nov 08;7(25):1-17

Date

11/09/2005

Pubmed ID

16274491

DOI

10.1017/S1462399405010082

Scopus ID

2-s2.0-31044445987 (requires institutional sign-in at Scopus site)   82 Citations

Abstract

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.

Author List

Hjalt TA, Semina EV

Author

Elena V. Semina PhD Chief, Professor in the Ophthalmology and Visual Sciences department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Abdomen
Animals
Eye Abnormalities
Homeodomain Proteins
Humans
Protein Isoforms
Syndrome
Tooth Abnormalities
Transcription Factors