Phenotypic variability due to a novel Glu292Lys variation in exon 8 of the BEST1 gene causing best macular dystrophy

Archives of Ophthalmology

Volumn 127, Issue 7, 2009, Pages 913-920

  Sohn, Elliott H ^a,b,h   Francis, Peter J ^d   Duncan, Jacque L ^e   Weleber, Richard G ^d   Saperstein, David A ^f   Farrell, Donald F ^c   Stone, Edwin M ^g  

^a UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF WASHINGTON   (United States)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f Vitreoretinal Associates   (United States)

^g UNIVERSITY OF IOWA   (United States)

^h DOHENY EYE INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMINE; LYSINE;

ADULT; ARTICLE; AUTOFLUORESCENCE IMAGING; BEST1 GENE; CHILD; CLINICAL ARTICLE; CORRELATION ANALYSIS; DNA DETERMINATION; ELECTROOCULOGRAPHY; ELECTROPHYSIOLOGY; ELECTRORETINOGRAPHY; EXON; EYE EXAMINATION; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC CODE; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; HYPERMETROPIA; MALE; MUTATOR GENE; MYOPIA; OPHTHALMOSCOPY; OPTICAL COHERENCE TOMOGRAPHY; PATHOGENESIS; PHENOTYPIC VARIATION; PHOTOGRAPHY; PIGMENT EPITHELIUM; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA MACULA VITELLIFORM DEGENERATION; SUBRETINAL FLUID; VISUAL ACUITY;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHLORIDE CHANNELS; DNA MUTATIONAL ANALYSIS; ELECTROOCULOGRAPHY; ELECTROPHYSIOLOGY; EXONS; EYE PROTEINS; FEMALE; FLUORESCENCE; GENETIC VARIATION; GENOTYPE; GLUTAMINE; HUMANS; LYSINE; MACULAR DEGENERATION; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PHOTOGRAPHY; POINT MUTATION; TOMOGRAPHY, OPTICAL COHERENCE;

EID: 67650456911     PISSN: 00039950     EISSN: 15383601     Source Type: Journal    
DOI: 10.1001/archophthalmol.2009.148     Document Type: Article

References (56)

1. Petrukhin K, Koisti MJ, Bakall B, et al. Identification of the gene responsible for Best macular dystrophy. Nat Genet. 1998;19(3):241-247.
2. Marquardt A, Stöhr H, Passmore LA, Krämer F, Rivera A, Weber BH. 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(9):1517-1525.
3. 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. Proc Natl Acad Sci U S A. 2000;97(23):12758-12763.
4. Sun H, Tsunenari T, Yau KW, Nathans J. The vitelliform macular dystrophy protein defines a new family of chloride channels. Proc Natl Acad Sci U S A. 2002;99(6):4008-4013.
5. Tsunenari T, Sun H, Williams J, et al. Structure-function analysis of the bestrophin family of anion channels. J Biol Chem. 2003;278(42):41114- 41125.
6. Marmorstein LY, Wu J, McLaughlin P, et al. The light peak of the electroretinogram is dependent on voltage-gated calcium channels and antagonized by bestrophin (best-1). J Gen Physiol. 2006;127(5):577-589.
7. Rosenthal R, Bakall B, Kinnick T, et al. Expression of bestrophin-1, the product of the VMD2 gene, modulates voltage-dependent Ca2+ channels in retinal pigment epithelial cells. FASEB J. 2006;20(1):178-180.
8. Yu K, Xiao Q, Cui G, Lee A, Hartzell HC. The best disease-linked Cl- channel hBest1 regulates Ca V 1 (L-type) Ca2+ channels via src-homology-binding domains. J Neurosci. 2008;28(22):5660-5670.
9. Deutman AF. Electro-oculography in families with vitelliform dystrophy of the fovea: detection of the carrier state. Arch Ophthalmol. 1969;81(3):305-316.
10. Krill AE, Morse PA, Potts AM, Klien BA. Hereditary vitelliruptive macular degeneration. Am J Ophthalmol. 1966;61(6):1405-1415.
11. Miller SA, Bresnick GH, Chandra SR. Choroidal neovascular membrane in Best's vitelliform macular dystrophy. Am J Ophthalmol. 1976;82(2):252-255.
12. Mohler CW, Fine SL. Long-term evaluation of patients with Best's vitelliform dystrophy. Ophthalmology. 1981;88(7):688-692.
13. Fishman GA, Baca W, Alexander KR, Derlacki DJ, Glenn AM, Viana M. Visual acuity in patients with best vitelliform macular dystrophy. Ophthalmology. 1993;100(11):1665-1670.
14. Chung MM, Oh KT, Streb LM, Kimura AE, Stone EM. Visual outcome following subretinal hemorrhage in Best disease. Retina. 2001;21(6):575-580.
15. Frangieh GT, Green WR, Fine SL. A histopathologic study of Best's macular dystrophy. Arch Ophthalmol. 1982;100(7):1115-1121.
16. O'Gorman S, Flaherty WA, Fishman GA, Berson EL. Histopathologic findings in Best's vitelliform macular dystrophy. Arch Ophthalmol. 1988;106(9):1261-1268.
17. Weingeist TA, Kobrin JL, Watzke RC. Histopathology of Best's macular dystrophy. Arch Ophthalmol. 1982;100(7):1108-1114.
18. Bakall B, Radu RA, Stanton JB, et al. Enhanced accumulation of A2E in individuals homozygous or heterozygous for mutations in BEST1 (VMD2). Exp Eye Res. 2007;85(1):34-43.
19. Mullins RF, Kuehn MH, Faidley EA, Syed NA, Stone EM. Differential macular and peripheral expression of bestrophin in human eyes and its implication for best disease. Invest Ophthalmol Vis Sci. 2007;48(7):3372-3380.
20. Mullins RF, Oh KT, Heffron E, Hageman GS, Stone EM. Late development of vitelliform lesions and flecks in a patient with best disease: clinicopathologic correlation. Arch Ophthalmol. 2005;123(11):1588-1594.
21. Pianta MJ, Aleman TS, Cideciyan AV, et al. In vivo micropathology of Best macular dystrophy with optical coherence tomography. Exp Eye Res. 2003;76(2):203-211.
22. Renner AB, Tillack H, Kraus H, et al. Late onset is common in best macular dystrophy associated with VMD2 gene mutations. Ophthalmology. 2005;112(4):586-592.
23. von Rückmann A, Fitzke FW, Bird AC. In vivo fundus autofluorescence in macular dystrophies. Arch Ophthalmol. 1997;115(5):609-615.
24. Bakall B, Marknell T, Ingvast S, et al. The mutation spectrum of the bestrophin protein: functional implications. Hum Genet. 1999;104(5):383-389.
25. Caldwell GM, Kakuk LE, Griesinger IB, et al. Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. Genomics. 1999;58(1):98-101.
26. Eksandh L, Bakall B, Bauer B, Wadelius C, Andréasson S. Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene. Ophthalmic Genet. 2001;22(2):107-115.
27. Marchant D, Yu K, Bigot K, et al. New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy. J Med Genet. 2007;44(3):e70.
28. Wabbels B, Preising MN, Kretschmann U, Demmler A, Lorenz B. Genotype-phenotype correlation and longitudinal course in ten families with Best vitelliform macular dystrophy. Graefes Arch Clin Exp Ophthalmol. 2006;244(11):1453-1466.
29. Apushkin MA, Fishman GA, Taylor CM, Stone EM. Novel de novo mutation in a patient with Best macular dystrophy. Arch Ophthalmol. 2006;124(6):887-889.
30. Krämer F, Mohr N, Kellner U, Rudolph G, Weber BH. Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD). Hum Mutat. 2003;22(5):418.
31. Krämer F, White K, Pauleikhoff D, et al. 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. Eur J Hum Genet. 2000;8(4):286-292.
32. Li Y, Wang G, Dong B, et al. A novel mutation of the VMD2 Gene in a Chinese family with best vitelliform macular dystrophy. Ann Acad Med Singapore. 2006;35(6):408-410.
33. Marchant D, Gogat K, Boutboul S, et al. Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy. Hum Mutat. 2001;17(3):235.
34. Seddon JM, Sharma S, Chong S, Hutchinson A, Allikmets R, Adelman RA. Phenotype and genotype correlations in two best families. Ophthalmology. 2003;110(9):1724-1731.
35. Sodi A, Passerini I, Simonelli F, Testa F, Menchini U, Torricelli F. A novel mutation in the VMD2 gene in an Italian family with Best maculopathy. J Fr Ophtalmol. 2007;30(6):616-620.
36. White K, Marquardt A, Weber BH. VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies. Hum Mutat. 2000;15(4):301-308.
37. Palomba G, Rozzo C, Angius A, Pierrottet CO, Orzalesi N, Pirastu M. A novel spontaneous missense mutation in VMD2 gene is a cause of a best macular dystrophy sporadic case. Am J Ophthalmol. 2000;129(2):260-262.
38. Schatz P, Klar J, Andréasson S, Ponjavic V, Dahl N. Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2. Ophthalmic Genet. 2006;27(2):51-56.
39. Lotery AJ, Munier FL, Fishman GA, et al. Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. Invest Ophthalmol Vis Sci. 2000;41(6):1291-1296.
40. Marchant D, Gogat K, Dureau P, et al. 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(3):167-174.
41. Duncan JL, Zhang Y, Gandhi J, et al. High-resolution imaging with adaptive optics in patients with inherited retinal degeneration. Invest Ophthalmol Vis Sci. 2007;48(7):3283-3291.
42. Spaide RF. Fundus autofluorescence and age-related macular degeneration. Ophthalmology. 2003;110(2):392-399.
43. Marmor MF, Zrenner E; International Society for Clinical Electrophysiology of Vision. Standard for clinical electro-oculography. Arch Ophthalmol. 1993;111(5):601-604.
44. Marmor MF, Zrenner E; International Society for Clinical Electrophysiology of Vision. Standard for clinical electroretinography (1999 update). Doc Ophthalmol. 1998-1999;97(2):143-156.
45. Marmor MF, Hood DC, Keating D, Kondo M, Seeliger MW, Miyake Y; International Society for Clinical Electrophysiology of Vision. Guidelines for basic multifocal electroretinography (mfERG). Doc Ophthalmol. 2003;106(2):105-115.
46. Weleber RG. Fast and slow oscillations of the electro-oculogram in Best's macular dystrophy and retinitis pigmentosa. Arch Ophthalmol. 1989;107(4):530-537.
47. Marmorstein AD, Stanton JB, Yocom J, et al. A model of best vitelliform macular dystrophy in rats. Invest Ophthalmol Vis Sci. 2004;45(10):3733-3739.
48. Stöhr H, Marquardt A, Nanda I, Schmid M, Weber BH. Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family. Eur J Hum Genet. 2002;10(4):281-284.
49. Bard LA, Cross HE. Genetic counseling of families with Best macular dystrophy. Trans Sect Ophthalmol Am Acad Ophthalmol Otolaryngol. 1975;79(6):OP865-OP873.
50. Yardley J, Leroy BP, Hart-Holden N, et al. Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). Invest Ophthalmol Vis Sci. 2004;45(10):3683-3689.
51. Burgess R, Millar ID, Leroy BP, et al. Biallelic mutation of BEST1 causes a distinct retinopathy in humans. Am J Hum Genet. 2008;82(1):19-31.
52. Esumi N, Kachi S, Campochiaro PA, Zack DJ. VMD2 promoter requires two proximal E-box sites for its activity in vivo and is regulated by the MITF-TFE family. J Biol Chem. 2007;282(3):1838-1850.
53. Esumi N, Oshima Y, Li Y, Campochiaro PA, Zack DJ. Analysis of the VMD2 promoter and implication of E-box binding factors in its regulation. J Biol Chem. 2004;279(18):19064-19073.
54. Guziewicz KE, Zangerl B, Lindauer SJ, et al. Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease. Invest Ophthalmol Vis Sci. 2007;48(5):1959-1967.
55. Querques G, Regenbogen M, Quijano C, Delphin N, Soubrane G, Souied EH. High-definition optical coherence tomography features in vitelliform macular dystrophy. Am J Ophthalmol. 2008;146(4):501-507.
56. Spaide RF, Noble K, Morgan A, Freund KB. Vitelliform macular dystrophy. Ophthalmology. 2006;113(8):1392-1400.