Abstract
Paired box gene 6 (PAX6) is the causative gene of aniridia. It is a dominantly inherited eye abnormality characterized
by partial or complete absence of the iris. The PAX6 gene is located on chromosome 11p13 and contains 14 exons. It is expressed mainly
in the developing eye and central nervous system. Submicroscopic copy number variations
are common in the human genome. Submicroscopic deletions may cause several human diseases,
either by disrupting coding sequences or by eliminating regulatory elements essential
for expression of the gene in question. Over the past several years, array-based comparative
genomic hybridization has become an increasingly useful tool for both identifying
normal cytogenetic variations and characterizing chromosomal abnormalities associated
with developmental delays and cancer. Our results support the notion that assessing
copy number variation of the PAX6 gene itself and also of flanking regions, may contribute to the molecular diagnosis
of aniridia.
Keywords
To read this article in full you will need to make a payment
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:
Subscribe to Journal of Clinical NeuroscienceAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- A new set of primers for mutation analysis of the human PAX6 gene.Hum Mutat. 1998; 12: 128-134
- Cloning and characterization of canine PAX6 and evaluation as a candidate gene in a canine model of aniridia.Mol Vis. 2007; 13: 431-442
- Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities.Mol Vis. 2007; 13: 511-523
- Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia.Am J Hum Genet. 2002; 71: 1138-1149
- Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters’ anomaly.Nat Genet. 1994; 6: 168-173
- Gillespie’s syndrome (incomplete aniridia, cerebellar ataxia and oligophrenia).Ophthalmic Paed Gen. 1984; 4: 29-32
- The master control gene for morphogenesis and evolution of the eye.Genes Cells. 1996; 1: 11-15
- Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region.Cell. 1991; 67: 1059-1074
- A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation.Am J Med Genet A. 2007; 143A: 1802-1805
- Identification of novel mutant PAX6 alleles in Indian cases of familial aniridia.BMC Ophthalmol. 2006; 6: 28
- Peripheral blood culture.in: Barch M. The ACT Cytogenetics Laboratory Manual. Raven Press, New York1991: 17-30
- Analysis of chromosome breakpoints in neuroblastoma at sub-kilobase resolution using fine-tiling oligonucleotide array CGH.Gene Chromosome Canc. 2005; 44: 305-319
- High-resolution analysis of chromosomal breakpoints and genomic instability identifies PTPRD as a candidate tumor suppressor gene in neuroblastoma.Cancer Res. 2006; 66: 3673-3680
- A new non-linear normalization method for reducing variability in DNA microarray experiments.Genome Biol. 2002; 3: 1-16
- Circular binary segmentation for the analysis of array-based DNA copy number data.Biostatistics. 2004; 5: 557-572
- New 3’ elements control Pax6 expression in the developing pretectum, neural retina and olfactory region.Mech Dev. 2002; 112: 89-100
- Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype.Hum Mol Genet. 1995; 4: 415-422
- Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6.Hum Mol Genet. 2001; 10: 2049-2059
- 3’ deletions cause aniridia by preventing PAX6 gene expression.P Natl Acad Sci USA. 2000; 97: 13755-13759
- Subfunctionalization of duplicated zebrafish pax6 genes by cis-regulatory divergence.PLoS Genet. 2008; 4: e29
- Pax6 3’ deletion results in aniridia, autism and mental retardation.Hum Genet. 2008; 123: 371-378
- Common deletion polymorphisms in the human genome.Nat Genet. 2006; 38: 86-92
- Rapid identification of disease-causing mutations using copy number analysis within linkage intervals.Hum Mutat. 2007; 28: 1236-1240
Article info
Publication history
Accepted:
March 11,
2009
Received:
December 11,
2008
Identification
Copyright
© 2009 Elsevier Ltd. Published by Elsevier Inc. All rights reserved.
