Scientific background:

Summary: The PAX6 gene encodes paired box 6, a transcription factor. Mutations in this gene cause autosomal dominant ocular disorders such as aniridia and Peter's anomaly. Aniridia associated with Wilms tumor is caused by microdeletions involving the neighboring WT1 gene.

Methodology:

	clinical test	Method		Genomic sequencing of the entire coding region
		Turn-around time		20 working days
		Effort		medium
		Specimen		DNA
		Quality assessment		Internal quality control only
	All known and new missense, nonsense and splice mutations can be detected.
	clinical test	Method		Carrier testing
		Turn-around time		5 working days
		Effort		little
		Specimen		DNA
		Quality assessment		Internal quality control only
	The test is only specific about the mutation already known in this kindred.

Literature: 

Ashery-Padan R et al. (2000) Pax6 activity in the lens primordium is required for lens formation and for correct placement of a single retina in the eye.
Atchaneeyasakul LO et al. (2006) Novel and de-novo truncating PAX6 mutations and ocular phenotypes in Thai aniridia patients.
Axton R et al. (1997) The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases.
Azuma N et al. (1996) PAX6 missense mutation in isolated foveal hypoplasia.
Azuma N et al. (2005) Transdifferentiation of the retinal pigment epithelia to the neural retina by transfer of the Pax6 transcriptional factor.
Azuma N et al. (2005) The Pax6 isoform bearing an alternative spliced exon promotes the development of the neural retinal structure.
Azuma N et al. (1999) Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies.
Azuma N et al. (2003) Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations.
Bamiou DE et al. (2004) Deficient auditory interhemispheric transfer in patients with PAX6 mutations.
Bamiou DE et al. (2004) Defective auditory interhemispheric transfer in a patient with a PAX6 mutation.
Bandah D et al. (2007) A complex expression pattern of Pax6 in the pigeon retina.
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Chao LY et al. (2003) Missense mutations in the DNA-binding region and termination codon in PAX6.
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Davis LK et al. (2008) Pax6 3' deletion results in aniridia, autism and mental retardation.
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Dominguez M et al. (2004) Growth and specification of the eye are controlled independently by Eyegone and Eyeless in Drosophila melanogaster.
Fantes J et al. (1995) Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype.
Fantes JA et al. (1992) Submicroscopic deletions at the WAGR locus, revealed by nonradioactive in situ hybridization.
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Mann RS et al. (2004) Two Pax are better than one.
Marquardt T et al. (2001) Pax6 is required for the multipotent state of retinal progenitor cells.
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Sander M et al. (1997) Genetic analysis reveals that PAX6 is required for normal transcription of pancreatic hormone genes and islet development.
Scardigli R et al. (2001) Crossregulation between Neurogenin2 and pathways specifying neuronal identity in the spinal cord.
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Singh S et al. (2001) Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function.
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Singh S et al. (1998) Truncation mutations in the transactivation region of PAX6 result in dominant-negative mutants.
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Thaung C et al. (2002) Novel ENU-induced eye mutations in the mouse: models for human eye disease.
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