Open Access

Bestrophin 1 gene analysis and associated clinical findings in a Chinese patient with Best vitelliform macular dystrophy

  • Authors:
    • Ying Lin
    • Tao Li
    • Hongbin Gao
    • Yu Lian
    • Chuan Chen
    • Yi Zhu
    • Yonghao Li
    • Bingqian Liu
    • Wenli Zhou
    • Hongye Jiang
    • Xialin Liu
    • Xiujuan Zhao
    • Xiaoling Liang
    • Chenjin Jin
    • Xinhua Huang
    • Lin Lu
  • View Affiliations

  • Published online on: August 4, 2017     https://doi.org/10.3892/mmr.2017.7174
  • Pages: 4751-4755
  • Copyright: © Lin et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

The aim of the present study was to investigate the clinical characteristics and the underlying genetic causes of Best vitelliform macular dystrophy (BVMD) in a sporadic case in a Chinese patient. A 10‑year‑old boy was diagnosed with BVMD; complete ophthalmic examinations were performed, including best‑corrected visual acuity, intraocular pressure, slit‑lamp examination, fundus photograph, optical coherence tomography and fundus fluorescein angiography imaging. Genomic DNA was extracted from leukocytes of the peripheral blood collected from this patient and his family members. DNA samples from 200 unrelated subjects from the Chinese population were used as controls. A total of 11 exons of the bestrophin 1 (BEST1) gene were amplified by polymerase chain reaction and directly sequenced. The results revealed that the patient presented with yellowish lesions in the macular area. Heterozygous mutations c.292G>A (p.Glu98Lys) in exon 4 and c.1608C>T (p.Thr536Thr) in exon 10 of the BEST1 gene were identified in this sporadic case; however, this was not identified in any of his unaffected family members or in the normal controls. The c.292G>A (p.Glu98Lys) mutation has not been previously reported, whereas the c.1608C>T (p.Thr536Thr) mutation is a previously characterized single nucleotide polymorphism (SNP). In conclusion, BEST1 gene mutations and polymorphisms have been reported in diverse ethnic groups, and the present study identified a novel BEST1 gene mutation and an SNP that occurred simultaneously in a Chinese patient with BVMD.

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October-2017
Volume 16 Issue 4

Print ISSN: 1791-2997
Online ISSN:1791-3004

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Spandidos Publications style
Lin Y, Li T, Gao H, Lian Y, Chen C, Zhu Y, Li Y, Liu B, Zhou W, Jiang H, Jiang H, et al: Bestrophin 1 gene analysis and associated clinical findings in a Chinese patient with Best vitelliform macular dystrophy. Mol Med Rep 16: 4751-4755, 2017
APA
Lin, Y., Li, T., Gao, H., Lian, Y., Chen, C., Zhu, Y. ... Lu, L. (2017). Bestrophin 1 gene analysis and associated clinical findings in a Chinese patient with Best vitelliform macular dystrophy. Molecular Medicine Reports, 16, 4751-4755. https://doi.org/10.3892/mmr.2017.7174
MLA
Lin, Y., Li, T., Gao, H., Lian, Y., Chen, C., Zhu, Y., Li, Y., Liu, B., Zhou, W., Jiang, H., Liu, X., Zhao, X., Liang, X., Jin, C., Huang, X., Lu, L."Bestrophin 1 gene analysis and associated clinical findings in a Chinese patient with Best vitelliform macular dystrophy". Molecular Medicine Reports 16.4 (2017): 4751-4755.
Chicago
Lin, Y., Li, T., Gao, H., Lian, Y., Chen, C., Zhu, Y., Li, Y., Liu, B., Zhou, W., Jiang, H., Liu, X., Zhao, X., Liang, X., Jin, C., Huang, X., Lu, L."Bestrophin 1 gene analysis and associated clinical findings in a Chinese patient with Best vitelliform macular dystrophy". Molecular Medicine Reports 16, no. 4 (2017): 4751-4755. https://doi.org/10.3892/mmr.2017.7174