A novel mutation in the VMD2 gene in an Italian family with Best maculopathy

Journal Francais d'Ophtalmologie

Volumn 30, Issue 6, 2007, Pages 616-620

  Sodi, A ^a,d   Passerini, I ^b   Simonelli, F ^c   Testa, F ^c   Menchini, U ^a   Torricelli, F ^b  

^a UNIVERSITY OF FLORENCE   (Italy)

^b CAREGGI UNIVERSITY HOSPITAL   (Italy)

^c SECOND UNIVERSITY OF NAPLES   (Italy)

^d NONE   (Italy)

Author keywords

Best disease; Choroidal neovascularisation; Mutation analysis; VMD2 gene

Indexed keywords

EID: 34447647121     PISSN: 01815512     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0181-5512(07)89667-7     Document Type: Article

References (25)

1. Best F. Uber eine hereditare Maculaaffektion; Beitrag zur Vererbungslehre. Z Augenheilkd, 1905;13:199-212.
2. Souied E, Kaplan J, Coscas G, Soubrane G. Les dystrophies maculaires. J Fr Ophtalmol, 2003;26:743-62.
3. O'Gorman S, Flaherty WA, Fishman GA, Berson EA. Histopathologic findings in Best's vitelliform macular dystrophy. Arc Ophthalmol, 1998;106:1261-8.
4. Miller SA, Bresnick GH, Chandra SR. Choroidal neovascular membrane in Best's vitelliform macular dystrophy. Am J Ophthalmol, 1976;82:252-5.
5. Marano F, Deutman AF, Leys A, Aandekerk AL. Hereditary retinal dystrophies and choroidal neovascularization. Graefes Arch Clin Exp Ophthalmol, 2000;238:760-4.
6. Schachat AP, de la Cruz Z, Green WR, Patz A. Macular hole and retinal detachment in Best's disease. Retina, 1985;5:22-5.
7. Mehta M, Katsumi O, Tetsuka S, Hirose T, Tolentino FI. Best's macular dystrophy with a macular hole. Acta Ophthalmol, 1991;69:131-4.
8. Glacet-Bernard A, Coscas G. Full-thickness macular hole and retinal detachment complicating Best's disease. Eur J Ophthalmol, 1993;3:53-4.
9. Soliman MM. Vitelliform macular dystrophy: a cause of macular holes with retinal detachment. Eye, 1994;8:484-7.
10. Cross HE, Bard L. Electro-oculography in Best's macular dystrophy. Am J Ophthalmol, 1974;77:46-50.
11. Caldwell GM, Kakuk LE, Griesinger IB, Simpson SA, Nowak NJ, Small KW, et al. Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. Genomics, 1999;58:98-101.
12. Kramer F, Mohr N, Kellner U, Rudolph G, Weber BHF. Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD). Hum Mut, 2003;22:418.
13. Petrukhin K, Koisti MJ, Bakall B, Li W, Xie G, Marknell T, et al. Identification of the gene responsible for Best macular dystrophy. Nat Genet, 1997;19:241-4.
14. Stohr H, Marquardt A, Rivera A, Cooper P, Nowak NJ, Shows TB, et al. A gene map of the Best's vitelliform macular dystrophy region in chromosome 11q12-q13. Genome Res, 1998;8:48-56.
15. Marquardt A, Stohr H, Passmore LA, Kramer F, Rivera A, Weber BHF. Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease). Hum Mol Genet, 1998;7:1517-25.
16. Sun H, Tsunenari T, Yau KW, Nathans J. The vitelliform macular dystrophy protein defines a new family of chloride channels. PNAS, 2002;99:4008-13.
17. Lotery AJ, Munier FL, Fishman GA, Weleber RG, Jacobson SG, Affatigato L, et al. Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. Invest Ophthalmol Vis Sci, 2000;41:1291-6.
18. White K, Marquardt M, Yau KW, Nathans J. VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies. Hum Mut, 2000;15:301-8.
19. Bakall B, Marknell T, Ingvast S, Koisti MJ, Sandgren O, Li W, et al. The mutation spectrum of the bestrophin protein-functional implications. Hum Genet, 1999;104:383-9.
20. Oldenburg J, Ivaskevicius V, Rost S, Fregin A, White K, Holinski-Feder E, Muller CR, Weber BHF. Evaluation of DHPLC in the analysis of Hemophilia A. J Biochem Biophys, 2001;47:39-51.
21. Marchant D, Gogat K, Dureau P, Sainton K, Sternberg C, Gadin S. Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophy. Ophthalmic Genet, 2002;23:167-74.
22. Xiao W, Oefner PJ. Denaturing high-performance liquid chromatography: a review. Hum Mut, 2001;17:439-74.
23. Marmorstein AD, Marmorstein LY, Rayborn M, Wang X, Hollyfield JG, Petrukhin K. Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium. PNA S, 2000;97:12758-63.
24. Marquardt A, Stohr H, Passmore LA, Kramer F, Rivera A, Weber BHF, Weber BH. Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best-Disease). Hum Mol Genet, 1998;7:1517-25.
25. Marchant D, Gogat K, Boutboul S, Perquinot M, Sternberg C, Dureau P, et al. Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy. Hum Mut, 2001;17:235.