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Aniridia-Wilms-tumor syndrome

Aniridia-Wilms-tumor syndrome is an autosomal dominant disorder that is caused by microdeletions including neighboring genes PAX6 and WT1.

Systematic

Wilms tumor
Aniridia-Wilms-tumor syndrome
PAX6
WT1
Denys-Drash syndrome
Somatic nephroblastoma
WAGR syndrome

References:

1.

Mannens M et al. (1989) Autosomal dominant aniridia linked to the chromosome 11p13 markers catalase and D11S151 in a large Dutch family.

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2.

Crolla JA et al. (1996) FISH studies in a patient with sporadic aniridia and t(7;11) (q31.2;p13).

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3.

Axton R et al. (1997) The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases.

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4.

Prosser J et al. (1998) PAX6 mutations reviewed.

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5.

Churchill AJ et al. (2000) Prenatal diagnosis of aniridia.

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6.

Collinson JM et al. (2001) Primary defects in the lens underlie complex anterior segment abnormalities of the Pax6 heterozygous eye.

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7.

Crolla JA et al. (2002) Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia.

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8.

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9.

Holland EJ et al. (2003) Management of aniridic keratopathy with keratolimbal allograft: a limbal stem cell transplantation technique.

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10.

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11.

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12.

Brandt JD et al. (2004) Markedly increased central corneal thickness: an unrecognized finding in congenital aniridia.

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13.

Lyons LA et al. (1992) Resolution of the two loci for autosomal dominant aniridia, AN1 and AN2, to a single locus on chromosome 11p13.

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14.

Shaw MW et al. (1960) Congenital Aniridia.

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15.

Gessler M et al. (1989) Cloning of breakpoints of a chromosome translocation identifies the AN2 locus.

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16.

Sisodiya SM et al. (2001) PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans.

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17.

Pettenati MJ et al. (1989) Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia.

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18.

Davis LM et al. (1988) Two anonymous DNA segments distinguish the Wilms' tumor and aniridia loci.

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19.

Moore JW et al. (1986) Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)].

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20.

Rutledge JC et al. (1986) A balanced translocation in mice with a neurological defect.

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21.

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22.

Turleau C et al. (1984) Del11p13/nephroblastoma without aniridia.

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23.

Simola KO et al. (1983) Familial aniridia and translocation t(4;11)(q22;p13) without Wilms' tumor.

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24.

Narahara K et al. (1984) Regional mapping of catalase and Wilms tumoraniridia, genitourinary abnormalities, and mental retardation triad loci to the chromosome segment 11p1305--p1306.

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25.

Ferrell RE et al. (1980) Autosomal dominant aniridia: probable linkage to acid phosphatase-1 locus on chromosome 2.

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26.

Hittner HM et al. (1980) Variable expressivity in autosomal dominant aniridia by clinical, electrophysiologic, and angiographic criteria.

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27.

Boué A et al. (1980) [Congenital adrenal hyperplasia and HLA antigens]

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28.

Fukushima Y et al. (1993) Detection of a cryptic paracentric inversion within band 11p13 in familial aniridia by fluorescence in situ hybridization.

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29.

Funderburk SJ et al. (1977) Mental retardation associated with "balanced" chromosome rearrangements.

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30.

Elsas FJ et al. (1977) Familial aniridia with preserved ocular function.

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31.

Hanson IM et al. (1993) PAX6 mutations in aniridia.

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32.

Lauderdale JD et al. (2000) 3' deletions cause aniridia by preventing PAX6 gene expression.

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33.

Grønskov K et al. (2001) Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia.

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34.

Malandrini A et al. (2001) PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation.

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35.

Morrison D et al. (2002) National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology.

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36.

Curran RE et al. (1976) Isolated foveal hypoplasia.

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37.

Stone DL et al. (1976) Congenital central corneal leukoma (Peters' anomaly).

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38.

Ramaesh T et al. (2003) Corneal abnormalities in Pax6+/- small eye mice mimic human aniridia-related keratopathy.

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39.

Mitchell TN et al. (2003) Polymicrogyria and absence of pineal gland due to PAX6 mutation.

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40.

Jordan T et al. (1992) The human PAX6 gene is mutated in two patients with aniridia.

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41.

Fantes JA et al. (1992) Submicroscopic deletions at the WAGR locus, revealed by nonradioactive in situ hybridization.

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42.

D'Elia AV et al. (2006) Molecular analysis of a human PAX6 homeobox mutant.

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43.

Atchaneeyasakul LO et al. (2006) Novel and de-novo truncating PAX6 mutations and ocular phenotypes in Thai aniridia patients.

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44.

Ramaesh T et al. (2006) Increased apoptosis and abnormal wound-healing responses in the heterozygous Pax6+/- mouse cornea.

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45.

Hill RE et al. () Mouse small eye results from mutations in a paired-like homeobox-containing gene.

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46.

Ton CC et al. (1991) Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region.

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47.

Li S et al. (2007) The requirement of pax6 for postnatal eye development: evidence from experimental mouse chimeras.

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48.

Davis LK et al. (2008) Pax6 3' deletion results in aniridia, autism and mental retardation.

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49.

Glaser T et al. (1990) A mouse model of the aniridia-Wilms tumor deletion syndrome.

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50.

van der Meer-de Jong R et al. (1990) Location of the gene involving the small eye mutation on mouse chromosome 2 suggests homology with human aniridia 2 (AN2).

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51.

Oliver MD et al. (1987) Isolated foveal hypoplasia.

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52.

Martha A et al. (1995) Three novel aniridia mutations in the human PAX6 gene.

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53.

Fantes J et al. (1995) Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype.

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54.

Quiring R et al. (1994) Homology of the eyeless gene of Drosophila to the Small eye gene in mice and Aniridia in humans.

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55.

Glaser T et al. (1994) PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects.

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56.

Matsuo T et al. (1993) A mutation in the Pax-6 gene in rat small eye is associated with impaired migration of midbrain crest cells.

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57.

None (1994) Position-effect variegation and the new biology of heterochromatin.

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58.

None (1994) On the evolution of eyes: would you like it simple or compound?

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59.

Schedl A et al. (1996) Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities.

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60.

OMIM.ORG article

Omim 106210 external link
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