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Current molecular understanding of Axenfeld–Rieger syndrome
- Source :
- Expert Reviews in Molecular Medicine; 7(25), pp 1-17 (2005)
- Publication Year :
- 2005
- Publisher :
- Cambridge University Press (CUP), 2005.
-
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.
- Subjects :
- congenital, hereditary, and neonatal diseases and abnormalities
Axenfeld–Rieger
Biology
stomatognathic system
Rieger
Abdomen
Animals
Humans
Protein Isoforms
Eye Abnormalities
PITX2
Molecular Biology
Gene
Homeodomain Proteins
Genetics
PAX6
Tooth Abnormalities
Syndrome
Basic Medicine
Phenotype
Penetrance
eye diseases
stomatognathic diseases
glaucoma
PITX2 Gene
Molecular Medicine
Homeobox
Eye disorder
FOXC1
sense organs
Transcription Factors
Subjects
Details
- ISSN :
- 14623994
- Volume :
- 7
- Database :
- OpenAIRE
- Journal :
- Expert Reviews in Molecular Medicine
- Accession number :
- edsair.doi.dedup.....a148be9525ce6bcfbcd0801317725067