Genetic variations in Bestrophin‑1 and associated clinical findings in two Chinese patients with juvenile‑onset and adult‑onset best vitelliform macular dystrophy.
Genetic variations in Bestrophin‑1 and associated clinical findings in two Chinese patients with juvenile‑onset and adult‑onset best vitelliform macular dystrophy.
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两名中国青少年发病和成人发病的最佳卵黄样黄斑营养不良患者的 Bestropin-1 基因变异及相关临床表现
DOI：
10.3892/mmr.2017.7927
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发表时间：
2018-01
影响因子：
3.4
通讯作者：
Lu L
中科院分区：
文献类型：
--
作者：
Lin Y;Li T;Ma C;Gao H;Chen C;Zhu Y;Liu B;Lian Y;Huang Y;Li H;Wu Q;Liang X;Jin C;Huang X;Ye J;Lu L
贝斯特卵黄状黄斑营养不良（BVMD）是一种遗传性视网膜疾病，其特征在于视网膜下和视网膜下色素上皮间隙中的大蛋黄样病变的双侧累积。BVMD黄斑变性可在儿童或成年期开始。发病年龄的变化尚不清楚。本研究描述了两名中国青少年发作BVMD或成人发作BVMD患者的临床特征，并调查了潜在的遗传变异。1例16岁男性（患者1）被诊断为青少年发作BVMD，1例43岁女性（患者2）被诊断为成人发作BVMD。进行全面的眼科检查，包括最佳矫正视力、眼压、裂隙灯检查、眼底照相、光学相干断层扫描、眼底荧光血管造影成像和Espion电生理。从这些患者、其家庭成员和同一人群中的200名无关受试者收集的外周血白细胞中提取基因组DNA。用聚合酶链反应扩增了BEST-1基因的11个外显子，并直接测序。两名患者均在黄斑区出现病变。在患者1中，在BEST 1基因的外显子8中鉴定出杂合突变c.903T>G（p.D301E）。这种突变不存在于任何未受影响的家庭成员或正常对照中。多态性表型分析和从耐受中筛选不耐受的算法预测bestrophin-1蛋白的D301 E氨基酸替换是破坏性的。在患者2中，在BEST 1基因的外显子10中鉴定出单核苷酸多态性c.1608C>T（p.T536T）。这些发现扩大了BEST 1基因变异的范围，对BVMD患者的遗传咨询和治疗干预的发展有价值。
Best vitelliform macular dystrophy (BVMD) is a hereditary retinal disease characterized by the bilateral accumulation of large egg yolk-like lesions in the sub-retinal and sub-retinal pigment epithelium spaces. Macular degeneration in BVMD can begin in childhood or adulthood. The variation in the age of onset is not clearly understood. The present study characterized the clinical characteristics of two Chinese patients with either juvenile-onset BVMD or adult-onset BVMD and investigated the underlying genetic variations. A 16-year-old male (Patient 1) was diagnosed with juvenile-onset BVMD and a 43-year-old female (Patient 2) was diagnosed with adult-onset BVMD. Comprehensive ophthalmic examinations were performed, including best-corrected visual acuity, intraocular pressure, slit-lamp examination, fundus photography, optical coherence tomography, fundus fluorescein angiography imaging and Espion electrophysiology. Genomic DNA was extracted from peripheral blood leukocytes collected from these patients, their family members, and 200 unrelated subjects within in the same population. The 11 exons of the bestrophin-1 (BEST1) gene were amplified by polymerase chain reaction and directly sequenced. Both patients presented lesions in the macular area. In Patient 1, a heterozygous mutation c.903T>G (p.D301E) in exon 8 of the BEST1 gene was identified. This mutation was not present in any of the unaffected family members or the normal controls. Polymorphism phenotyping and the sorting intolerant from tolerant algorithm predicted that the amino acid substitution D301E in bestrophin-1 protein was damaging. In Patient 2, a single nucleotide polymorphism c.1608C>T (p.T536T) in exon 10 of the BEST1 gene was identified. These findings expand the spectrum of BEST1 genetic variation and will be valuable for genetic counseling and the development of therapeutic interventions for patients with BVMD.
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一名中国 Best 卵黄样黄斑营养不良患者的 Bestropin 1 基因分析及相关临床结果
影响因子：
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作者：
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