Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Aniridie-Wilms-Tumor-Syndrom

Das Aniridie-Wilms-Tumor-Syndrom ist eine autosomal dominante Erkrankung, die durch Mikrodeletionen der benachbarten PAX6- und WT1-Gene hervorgerufen wird.

Gliederung

Wilms-Tumor
Aniridie-Wilms-Tumor-Syndrom
PAX6
WT1
Denys-Drash-Syndrom
Somatisches Nephroblastom
WAGR-Syndrom

Referenzen:

1.

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

external link
2.

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

external link
3.

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

external link
4.

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

external link
5.

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

external link
6.

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

external link
7.

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

external link
8.

Recchia FM et al. (2002) Optical coherence tomography in the diagnosis of foveal hypoplasia.

external link
9.

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

external link
10.

Arroyave CP et al. (2003) Use of glaucoma drainage devices in the management of glaucoma associated with aniridia.

external link
11.

GROVE JH et al. (1961) A family study of aniridia.

external link
12.

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

external link
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.

external link
14.

Shaw MW et al. (1960) Congenital Aniridia.

external link
15.

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

external link
16.

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

external link
17.

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

external link
18.

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

external link
19.

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

external link
20.

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

external link
21.

Delleman JW et al. (1973) [The significance of atypical colobomata and defects of the iris for the diagnosis of the hereditary aniridia syndrome (author's transl)]

external link
22.

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

external link
23.

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

external link
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.

external link
25.

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

external link
26.

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

external link
27.

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

external link
28.

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

external link
29.

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

external link
30.

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

external link
31.

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

external link
32.

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

external link
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.

external link
34.

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

external link
35.

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

external link
36.

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

external link
37.

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

external link
38.

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

external link
39.

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

external link
40.

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

external link
41.

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

external link
42.

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

external link
43.

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

external link
44.

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

external link
45.

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

external link
46.

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

external link
47.

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

external link
48.

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

external link
49.

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

external link
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).

external link
51.

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

external link
52.

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

external link
53.

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

external link
54.

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

external link
55.

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

external link
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.

external link
57.

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

external link
58.

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

external link
59.

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

external link
60.

OMIM.ORG article

Omim 106210 external link
Update: 14. August 2020
Copyright © 2005-2020 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz