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Retina Internationa
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Retina International's
Scientific Newsletter |
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Disease
Database Vitreoretinopathies and Vitreoretinal Degenerations |
Recent update from: 18.03.2001
| Disease | Gene locus | MIM | Gene | Gene MIM | MoI | Assignment |
|---|---|---|---|---|---|---|
| Linked Marker [cM] | Remarks | References | ||||
| ad familiar exudative | EVR1 | 133780 | ad | 11q13-23 | ||
| D11S533- D11S527 | (6) (5) (7) |
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| ad familiar exudative | EVR3 | 133780 | ad | 11p12-13 | ||
| EVR1-[30 cm]-D11S1981-[14 cM GATA34E08-D11S904-D11S2364-D11S2001-D11S2010-D11S4965-D11S1392-D11S935-D11S4102]-D11S4966-D11S1911-D11S905-D11S1785-D11S903 |
|
(2) | ||||
| neovascular inflammatory | VRNI | 193235 | ad | 11q13 | ||
| INT2- D11S4166 | (10) (11) |
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| Wagner syndrome | WGN1 | 143200 | ad | 5q13-14 | ||
| GATA3H06 D5S815 |
(1) | |||||
| Wagner syndrome | WGN2 | COL2A1 | 120140 | ad | 12q13.11-q13 | |
| (4) | ||||||
| x-linked familiar exudative | XEFVR | 305390 | NDP | 310600 | xl | Xp11.3-11.23 |
| (3) (9) (8) |
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References
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. Brown,D.M., Graemiger,R.A., Hergersberg,M., Schinzel,A., Messmer,E.P.,
Niemeyer,G., Schneeberger,S.A., Streb,L.M., Taylor,C.M., Kimura,A.E.,
Weingeist,T.A., Sheffield,C., and Stone,E.M. Genetic linkage of Wagner disease
and erosive vitreoretinopathy to chromosome 5q13-14. 1995; Arch.Ophthalmol.
113: 671-675.
Goto Top
. Downey,L.M., Keen,T.J., Roberts,E., Mansfield,D.C., Bamashmus,M.,
Inglehearn,C.F., Heon,E., Paterson,A.D., Fraser,M., Billingsley,G., Priston,M.,
Balmer,A., Schorderet,D.F., Verner,A., Hudson,T.J., Munier,F.L., Ringpfeil,F.,
Nakano,A., Uitto,J., Pulkkinen,L., Uitto,J., Pulkkinen,L., Ringpfeil,F.,
Ringpfeil,F., Lebwohl,M.G., and Uitto,J. A New Locus for Autosomal Dominant
Familial Exudative Vitreoretinopathy Maps to Chromosome 11p12-13 A Progressive
Autosomal Recessive Cataract Locus Maps to Chromosome 9q13-q22 Compound
Heterozygosity for a Recurrent 16.5-kb Alu-Mediated Deletion Mutation and
Single-Base-Pair Substitutions in the ABCC6 Gene Results in Pseudoxanthoma
Elasticum Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder
at the environment-genome interface? Abstracts: mutations in the MRP6 gene
cause pseudoxanthoma elasticum. 2000; J.Invest Dermatol. 115: 332
Link to PudMed
Goto Top
. Fuchs,S., Kellner,U., Wedemann,H., and Gal,A. Missense mutation
(Arg121Trp) in the Norrie disease gene associated with x-linked exudative
vitreoretinopathy. 1995; Hum.Mutat. 6: 257-259.
Link to PudMed
Goto Top
. Korkko,J., Ritvaniemi,P., Haataja,L., Kaariainen,H., Kivirikko,K.I.,
Prockop,D.J., and Ala Kokko,L. Mutation in type II procollagen (COL2A1) that
substitutes aspartate for glycine alpha 1 - 67 and that causes cataracts and
retinal detachment: evidence for molecular heterogeneity in the Wagner
syndrome and the Stickler syndrome (arthro-ophthalmopathy). 1993;
Am.J.Hum.Genet. 53: 55-61.
Link to PudMed
Goto Top
. Li,Y., Fuhrmann,C., Schwinger,E., Gal,A., and Laqua,H. The gene for
autosomal dominant familial exudative vitreoretinopathy (Criswick-Schepens) on
the long arm of chromosome 11. 1992; Am.J.Ophthalmol. 113: 712-713.
Link to PudMed
Goto Top
. Li,Y., Muller,B., Fuhrmann,C., van Nouhuys,C.E., Laqua,H.,
Humphries,P., Schwinger,E., and Gal,A. The autosomal dominant familial
exudative vitreoretinopathy locus maps on 11q and is closely linked to
D11S533. 1992; Am.J.Hum.Genet. 51: 749-754.
Link to PudMed
Goto Top
. Muller,B., Orth,U., van Nouhuys,C.E., Duvigneau,C., Fuhrmann,C.,
Schwinger,E., Laqua,H., and Gal,A. Mapping of the autosomal dominant exudative
vitreoretinopathy locus (EVR1) by multipoint linkage analysis in four
families. 1994; Genomics. 20: 317-319.
Link to PudMed
Goto Top
. Shastry,B.S., Hejtmancik,J.F., Plager,D.A., Hartzner,M.K., and
Trese,M.T. X-linked familial exudative vitreoretinopathy (FEVR): Linkage
analysis and mutation within a candidate gene. 1995; Invest.Ophthalmol.Vis.Sci.
36: S893
Goto Top
. Shastry,B.S., Hejtmancik,J.F., and Trese,M.T. Identification of
novel missense mutations in the Norrie disease gene associated with one
X-linked and four sporadic cases of familial exudative vitreoretinopathy.
1997; Hum.Mutat. 9: 396-401.
Link to PudMed
Goto Top
. Sonkin,P.L., Brown,J., Folk,J.C., Taylor,C.M., Affatigato,L.M.,
Sheffield,V.C., and Stone,E.M. Clinical Characterization Of A Second Family
With Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy (ADNIV) And
Fine Mapping Of The Disease Interval. 1997; Invest.Ophthalmol.Vis.Sci. 38:
S796-S796
Goto Top
. Stone,E.M., Kimura,A.E., Folk,J.C., Bennett,S.R., Nichols,B.E.,
Streb,L.M., and Sheffield,V.C. Genetic linkage of autosomal dominant
neovascular inflammatory vitreoretinopathy to chromosome 11q13. 1992;
Hum.Mol.Genet. 1: 685-689.
Link to PudMed
Goto Top
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This site is maintained and edited by
Dr. rer. medic. Markus Preising, Dipl.Biol. Molecular Genetics Laboratory Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics University of Regensburg Head: Prof. Dr. med. Birgit Lorenz |
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