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Two novel mutations in the bestrophin-1 gene and associated clinical observations in patients with best vitelliform macular dystrophy

  • Authors:
    • Ying Lin
    • Hongbin Gao
    • Yuhua Liu
    • Xuanwei Liang
    • Xialin Liu
    • Zhonghao Wang
    • Wanjun Zhang
    • Jiangna Chen
    • Zhuoling Lin
    • Xinhua Huang
    • Yizhi Liu
  • View Affiliations / Copyright

    Affiliations: State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat‑Sen University, Guangzhou, Guangdong 510060, P.R. China, Guangdong Provincial Key Laboratory of Occupational Diseases Prevention and Treatment, Guangdong Hospital for Occupational Disease Prevention and Treatment, Guangzhou, Guangdong 510300, P.R. China
    Copyright: © Lin et al. This is an open access article distributed under the terms of Creative Commons Attribution License [CC BY_NC 3.0].
  • Pages: 2584-2588
    |
    Published online on: April 30, 2015
       https://doi.org/10.3892/mmr.2015.3711
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Abstract

The purpose of the current study was to investigate the 11 bestrophin-1 (BEST1) exons in patients with best vitelliform macular dystrophy (BVMD), and to characterize the associated clinical features. Complete ophthalmic examinations were conducted on two families, and two family members were diagnosed with BVMD. Genomic DNA was extracted from the leukocytes of peripheral blood collected from the patients and their family members, in addition to 100 unrelated control subjects recruited from the same population. The polymerase chain reaction was used to amplify a total of 11 exons of the BEST1 gene, which were directly sequenced. Ophthalmic examinations, including best‑corrected visual acuity, slit‑lamp examination, fundus examination, fundus photography and fluorescein angiography imaging, as well as anterior segment analysis with Pentacam and optical coherence tomography, were conducted. The patients exhibited yellowish lesions in the macular area. A heterozygous mutation c.910_912delGAT (p.304del Asp) in exon 7 was identified in Case 1. A heterozygous BEST1 missense mutation c.685T>G (p.Trp229Gly) in exon 5 was identified in Case 2, but not in any of the unaffected family members or normal controls. Although BEST1 gene mutations and polymorphisms have previously been reported in various ethnic groups, the current study identified, for the first time to the best of our knowledge, two novel BEST1 gene mutations in patients with BVMD.
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1 

White K, Marquardt A and Weber BH: VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies. Hum Mutat. 15:301–308. 2000. View Article : Google Scholar : PubMed/NCBI

2 

Sun H, Tsunenari T, Yau KW and Nathans J: The vitelliform macular dystrophy protein defines a new family of chloride channels. Proc Natl Acad Sci USA. 99:4008–4013. 2002. View Article : Google Scholar : PubMed/NCBI

3 

Sodi A, Passerini I, Murro V, Caputo R, Bacci GM, et al: BEST1 sequence variants in Italian patients with vitelliform macular dystrophy. Mol Vis. 18:2736–2748. 2012.PubMed/NCBI

4 

MacDonald IM and Lee T: Best vitelliform macular dystrophy. GeneReviews® (Internet). Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, et al: University of Washington; Seattle, WA: 2003

5 

Hayami M, Decock C, Brabant P, Van Kerckhoven W, Lafaut BA, et al: Optical coherence tomography of adult-onset vitelliform dystrophy. Bull Soc Belge Ophtalmol. 289:53–61. 2003.PubMed/NCBI

6 

Eksandh L, Bakall B, Bauer B, Wadelius C and Andréasson S: Best’s vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene. Ophthalmic Genet. 22:107–115. 2001. View Article : Google Scholar : PubMed/NCBI

7 

Boon CJ, Theelen T, Hoefsloot EH, van Schooneveld MJ, Keunen JE, et al: Clinical and molecular genetic analysis of best vitelliform macular dystrophy. Retina. 29:835–847. 2009. View Article : Google Scholar : PubMed/NCBI

8 

Furino C, Boscia F, Cardascia N, Sborgia L and Sborgia C: Fundus autofluorescence, optical coherence tomography and visual acuity in adult-onset foveomacular dystrophy. Ophthalmologica. 222:240–244. 2008. View Article : Google Scholar : PubMed/NCBI

9 

Caldwell GM, Kakuk LE, Griesinger IB, Simpson SA, Nowak NJ, et al: Bestrophin gene mutations in patients with best vitelliform macular dystrophy. Genomics. 58:98–101. 1999. View Article : Google Scholar : PubMed/NCBI

10 

Krämer F, Mohr N, Kellner U, Rudolph G and Weber BH: Ten novel mutations in VMD2 associated with best macular dystrophy (BMD). Hum Mutat. 22:4182003. View Article : Google Scholar : PubMed/NCBI

11 

Krämer F, White K, Pauleikhoff D, Gehrig A, Passmore L, 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. 8:286–292. 2000. View Article : Google Scholar : PubMed/NCBI

12 

MacDonald IM, Gudiseva HV, Villanueva A, Greve M, Caruso R, et al: Phenotype and genotype of patients with autosomal recessive bestrophinopathy. Ophthalmic Genet. 33:123–129. 2012. View Article : Google Scholar

13 

Marchant D, Gogat K, Boutboul S, Pequignot M, Sternberg C, et al: Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy. Hum Mutat. 17:2352001. View Article : Google Scholar : PubMed/NCBI

14 

Marchant D, Yu K, Bigot K, Roche O, Germain A, et al: New VMD2 gene mutations identified in patients affected by best vitelliform macular dystrophy. J Med Genet. 44:e702007. View Article : Google Scholar : PubMed/NCBI

15 

Musarella MA: Molecular genetics of macular degeneration. Doc Ophthalmol. 102:165–177. 2001. View Article : Google Scholar : PubMed/NCBI

16 

Sodi A, Passerini I, Simonelli F, Testa F, Menchini U, et al: A novel mutation in the VMD2 gene in an Italian family with best maculopathy. J Fr Ophtalmol. 30:616–620. 2007. View Article : Google Scholar : PubMed/NCBI

17 

Zhao L, Grob S, Corey R, Krupa M, Luo J, et al: A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive best vitelliform macular dystrophy. Eye (Lond). 26:866–871. 2012. View Article : Google Scholar

18 

Shamshinova AM: Local ERG for clinical examination of eye diseases. Doc Ophthalmol. 76:1–11. 1990. View Article : Google Scholar : PubMed/NCBI

19 

Querques G, Zerbib J, Santacroce R, Margaglione M, Delphin N, et al: Functional and clinical data of best vitelliform macular dystrophy patients with mutations in the BEST1 gene. Mol Vis. 15:2960–2972. 2009.

20 

Lin Y, Liang X, Ai S, Chen C, Liu X, Luo L, et al: FGFR2 molecular analysis and related clinical findings in one Chinese family with Crouzon syndrome. Mol Vis. 18:449–454. 2012.PubMed/NCBI

21 

Allikmets R, Seddon JM, Bernstein PS, Hutchinson A, Atkinson A, et al: Evaluation of the best disease gene in patients with age-related macular degeneration and other maculopathies. Hum Genet. 104:449–453. 1999. View Article : Google Scholar : PubMed/NCBI

22 

Brecher R and Bird AC: Adult vitelliform macular dystrophy. Eye (Lond). 4:210–215. 1990. View Article : Google Scholar

23 

Preising MN, Pasquay C, Friedburg C, Bowl W, Jager M, et al: Autosomal recessive bestrophinopathy (ARB): a clinical and molecular description of two patients at childhood. Klin Monbl Augenheilkd. 229:1009–1017. 2012.In German. PubMed/NCBI

24 

Lacassagne E, Dhuez A, Rigaudière F, Dansault A, Vêtu C, Bigot K, Vieira V, Puech B, Defoort-Dhellemmes S and Abitbol M: Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy. Mol Vis. 17:309–322. 2011.PubMed/NCBI

25 

Booij JC, Boon CJ, van Schooneveld MJ, ten Brink JB, Bakker A, et al: Course of visual decline in relation to the Best1 genotype in vitelliform macular dystrophy. Ophthalmology. 117:1415–1422. 2010. View Article : Google Scholar : PubMed/NCBI

26 

Fishman GA, Baca W, Alexander KR, Derlacki DJ, Glenn AM, et al: Visual acuity in patients with best vitelliform macular dystrophy. Ophthalmology. 100:1665–1670. 1993. View Article : Google Scholar : PubMed/NCBI

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Copy and paste a formatted citation
Spandidos Publications style
Lin Y, Gao H, Liu Y, Liang X, Liu X, Wang Z, Zhang W, Chen J, Lin Z, Huang X, Huang X, et al: Two novel mutations in the bestrophin-1 gene and associated clinical observations in patients with best vitelliform macular dystrophy. Mol Med Rep 12: 2584-2588, 2015.
APA
Lin, Y., Gao, H., Liu, Y., Liang, X., Liu, X., Wang, Z. ... Liu, Y. (2015). Two novel mutations in the bestrophin-1 gene and associated clinical observations in patients with best vitelliform macular dystrophy. Molecular Medicine Reports, 12, 2584-2588. https://doi.org/10.3892/mmr.2015.3711
MLA
Lin, Y., Gao, H., Liu, Y., Liang, X., Liu, X., Wang, Z., Zhang, W., Chen, J., Lin, Z., Huang, X., Liu, Y."Two novel mutations in the bestrophin-1 gene and associated clinical observations in patients with best vitelliform macular dystrophy". Molecular Medicine Reports 12.2 (2015): 2584-2588.
Chicago
Lin, Y., Gao, H., Liu, Y., Liang, X., Liu, X., Wang, Z., Zhang, W., Chen, J., Lin, Z., Huang, X., Liu, Y."Two novel mutations in the bestrophin-1 gene and associated clinical observations in patients with best vitelliform macular dystrophy". Molecular Medicine Reports 12, no. 2 (2015): 2584-2588. https://doi.org/10.3892/mmr.2015.3711
Copy and paste a formatted citation
x
Spandidos Publications style
Lin Y, Gao H, Liu Y, Liang X, Liu X, Wang Z, Zhang W, Chen J, Lin Z, Huang X, Huang X, et al: Two novel mutations in the bestrophin-1 gene and associated clinical observations in patients with best vitelliform macular dystrophy. Mol Med Rep 12: 2584-2588, 2015.
APA
Lin, Y., Gao, H., Liu, Y., Liang, X., Liu, X., Wang, Z. ... Liu, Y. (2015). Two novel mutations in the bestrophin-1 gene and associated clinical observations in patients with best vitelliform macular dystrophy. Molecular Medicine Reports, 12, 2584-2588. https://doi.org/10.3892/mmr.2015.3711
MLA
Lin, Y., Gao, H., Liu, Y., Liang, X., Liu, X., Wang, Z., Zhang, W., Chen, J., Lin, Z., Huang, X., Liu, Y."Two novel mutations in the bestrophin-1 gene and associated clinical observations in patients with best vitelliform macular dystrophy". Molecular Medicine Reports 12.2 (2015): 2584-2588.
Chicago
Lin, Y., Gao, H., Liu, Y., Liang, X., Liu, X., Wang, Z., Zhang, W., Chen, J., Lin, Z., Huang, X., Liu, Y."Two novel mutations in the bestrophin-1 gene and associated clinical observations in patients with best vitelliform macular dystrophy". Molecular Medicine Reports 12, no. 2 (2015): 2584-2588. https://doi.org/10.3892/mmr.2015.3711
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