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Current molecular understanding of Axenfeld-Rieger syndrome.

Hjalt, Tord LU and Semina, Elena V (2005) In Expert Reviews in Molecular Medicine 7(25). p.1-17
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... (More)
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. (Less)
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author
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type
Contribution to journal
publication status
published
subject
keywords
Rieger, Axenfeld–Rieger, glaucoma, PITX2, FOXC1, PAX6.
in
Expert Reviews in Molecular Medicine
volume
7
issue
25
pages
1 - 17
publisher
Cambridge University Press
external identifiers
  • scopus:31044445987
ISSN
1462-3994
DOI
10.1017/S1462399405010082
language
English
LU publication?
yes
id
bbfc4271-824b-478e-9d35-c2e0ac35e87c (old id 148104)
alternative location
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16274491&dopt=Abstract
date added to LUP
2016-04-01 15:57:10
date last changed
2025-04-04 14:53:02
@article{bbfc4271-824b-478e-9d35-c2e0ac35e87c,
  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       = {{Hjalt, Tord and Semina, Elena V}},
  issn         = {{1462-3994}},
  keywords     = {{Rieger; Axenfeld–Rieger; glaucoma; PITX2; FOXC1; PAX6.}},
  language     = {{eng}},
  number       = {{25}},
  pages        = {{1--17}},
  publisher    = {{Cambridge University Press}},
  series       = {{Expert Reviews in Molecular Medicine}},
  title        = {{Current molecular understanding of Axenfeld-Rieger syndrome.}},
  url          = {{https://lup.lub.lu.se/search/files/4523737/625166.pdf}},
  doi          = {{10.1017/S1462399405010082}},
  volume       = {{7}},
  year         = {{2005}},
}