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

Lin,Ying; Gao,Hongbin; Liu,Yuhua; Liang,Xuanwei; Liu,Xialin; Wang,Zhonghao; Zhang,Wanjun; Chen,Jiangna; Lin,Zhuoling; Huang,Xinhua; Liu,Yizhi

doi:10.3892/mmr.2015.3711

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
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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
Published online on: April 30, 2015 https://doi.org/10.3892/mmr.2015.3711
Pages: 2584-2588
Copyright: © Lin et al. This is an open access article distributed under the terms of Creative Commons Attribution License [CC BY_NC 3.0].

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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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