Retina International's Scientific Newsletter
	Mutation Database Mutations of the Bestrophin Gene

Recent update from: 16.01.2004

References

1. Allikmets,R., Seddon,J.M., Bernstein,P.S., Hutchinson,A., Atkinson,A., Sharma,S., Gerrard,B., Li,W., Metzker,M.L., Wadelius,C., Caskey,C.T., Dean,M., and Petrukhin,K. Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies. 1999; Hum.Genet. 104: 449-453.
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2. Bakall,B., Marknell,T., Ingvast,S., Koisti,M.J., Sandgren,O., Li,W., Bergen,A.A., Andreasson,S., Rosenberg,T., Petrukhin,K., and Wadelius,C. The mutation spectrum of the bestrophin protein--functional implications. 1999; Hum.Genet. 104: 383-389.
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3. Caldwell,G.M., Kakuk,L.E., Griesinger,I.B., Simpson,S.A., Nowak,N.J., Small,K.W., Maumenee,I.H., Rosenfeld,P.J., Sieving,P.A., Shows,T.B., and Ayyagari,R. Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. 1999; Genomics. 58: 98-101.
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4. Eksandh,L., Bakall,B., Bauer,B., Wadelius,C., and Andreasson,S. Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene. 2001; Ophthalm.Genet. 22: 107-115.
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5. Krämer,F., Mohr,N., Kellner,U., Rudolph,G., and Weber,B.H. Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD). 2003; Hum Mutat. 22: 418
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6. Krämer,F., White,K., Pauleikhoff,D., Gehrig,A., Passmore,L., Rivera,A., Rudolph,G., Kellner,U., Andrassi,M., Lorenz,B., Rohrschneider,K., Blankenagel,A., Jurklies,B., Schilling,H., Schutt,F., Holz,F.G., and Weber,B.H. Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration. 2000; Eur.J.Hum.Genet. 8: 286-292.
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7. Lotery,A.J., Munier,F.L., Fishman,G.A., Weleber,R.G., Jacobson,S.G., Affatigato,L.M., Nichols,B.E., Schorderet,D.F., Sheffield,V.C., and Stone,E.M. Allelic variation in the VMD2 gene in best disease and age- related macular degeneration. 2000; Invest.Ophthalmol.Vis.Sci. 41: 1291-1296.
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8. Marchant,D., Gogat,K., Boutboul,S., Pequignot,M., Sternberg,C., Dureau,P., Roche,O., Uteza,Y., Hache,J.C., Puech,B., Puech,V., Dumur,V., Mouillon,M., Munier,F.L., Schorderet,D.F., Marsac,C., Dufier,J.L., and Abitbol,M. Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy. 2001; Hum.Mutat. 17: 235
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9. Marchant,D., Gogat,K., Dureau,P., Sainton,K., Sternberg,C., Gadin,S., Dollfus,H., Brasseur,G., Hache,J.C., Dumur,V., Puech,V., Munier,F., Schorderet,D.F., Marsac,C., Menasche,M., Dufier,J.L., and Abitbol,M. Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophy. 2002; Ophthalmic Genet. 23: 167-174.
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10. Marquardt,A., Stohr,H., Passmore,L.A., Krämer,F., Rivera,A., Weber,B.H.F., and Weber,B.H. Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Bests-Disease). 1998; Hum.Mol.Genet. 7: 1517-1525.
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11. Palomba,G., Rozzo,C., Angius,A., Pierrottet,C.O., Orzalesi,N., and Pirastu,M. A novel spontaneous missense mutation in VMD2 gene is a cause of a best macular dystrophy sporadic case. 2000; Am.J.Ophthalmol. 129: 260-262.
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12. Petrukhin,K., Koisti,M.J., Bakall,B., Li,W., Xie,G., Marknell,T., Sandgren,O., Forsman,K., Holmgren,G., Andreasson,S., Vujic,M., Bergen,A.A., McGarty Dugan,V., Figueroa,D., Austin,C.P., Metzker,M.L., Caskey,C.T., and Wadelius,C. Identification of the gene responsible for Best macular dystrophy. 1998; Nat.Genet. 19: 241-247.
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13. Ponjavic,V., Eksandh,L., Andreasson,S., Sjostrom,K., Bakall,C., Ingvast,S., Wadelius,C., and Ehinger,B. Clinical expression of Best's vitelliform macular dystrophy in Swedish families with mutations in the bestrophin gene. 1999; Ophthalm.Genet. 20: 251-257.
    Link to PubMed
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14. Seddon,J.M., Afshari,M.A., Sharma,S., Bernstein,P.S., Chong,S., Hutchinson,A., Petrukhin,K., and Allikmets,R. Assessment of mutations in the Best macular dystrophy (VMD2) gene in patients with adult-onset foveomacular vitelliform dystrophy, age-related maculopathy, and bull's-eye maculopathy. 2001; Ophthalmology. 108: 2060-2067.
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15. Yanagi,Y., Sekine,H., and Mori,M. Identification of a novel VMD2 mutation in Japanese patients with Best disease. 2002; Ophthalmic Genet. 23: 129-133.
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Contact the editor	Return to Database Page	This site is maintained and edited by Dr. rer. medic. Markus Preising, Dipl.Biol. Molecular Genetics Laboratory Department of Pediatric Ophthalmology, Strabismology and Ophthalmogenetics University of Regensburg Head: Prof. Dr. med. Birgit Lorenz