Bestrophin 1 gene analysis and associated clinical findings in a Chinese patient with Best vitelliform macular dystrophy.
Bestrophin 1 gene analysis and associated clinical findings in a Chinese patient with Best vitelliform macular dystrophy.
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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
DOI：
10.3892/mmr.2017.7174
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发表时间：
2017-10
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;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
本研究的目的是探讨最佳卵黄状黄斑营养不良（BVMD）的临床特点和潜在的遗传原因在一个散发的情况下，在中国患者。一名10岁男孩被诊断为BVMD;进行了完整的眼科检查，包括最佳矫正视力、眼压、裂隙灯检查、眼底照相、光学相干断层扫描和眼底荧光素血管造影成像。从该患者及其家属的外周血白细胞中提取基因组DNA。来自中国人群的200名无关受试者的DNA样本用作对照。采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。结果显示，患者在黄斑区出现黄色病变。在该散发病例中发现BEST 1基因第4外显子c.292G>A（p.Glu98Lys）和第10外显子c.1608C>T（p.Thr536Thr）杂合突变;然而，在其任何未受影响的家族成员或正常对照中均未发现该突变。c.292G>A（p.Glu98Lys）突变以前没有报道，而c.1608C>T（p.Thr536Thr）突变是以前表征的单核苷酸多态性（SNP）。总之，BEST 1基因突变和多态性已在不同的种族群体中报道，本研究确定了一个新的BEST 1基因突变和SNP，同时发生在中国患者的BVMD。
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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DOI：
10.3928/23258160-20140205-01
发表时间：
2014-02-14
期刊：
Ophthalmic surgery, lasers & imaging retina
影响因子：
--
作者：
Parodi, Maurizio Battaglia;Zucchiatti, Ilaria;Bandello, Francesco
通讯作者：
Bandello, Francesco
影响因子：
4
作者：
Marchant, D.;Yu, K.;Abitbol, M.
通讯作者：
Abitbol, M.
影响因子：
4.4
作者：
Lee, Christopher Seungkyu;Jun, Ikhyun;Kim, Eung Kweon
通讯作者：
Kim, Eung Kweon
影响因子：
4.4
作者：
Johnson, Adiv A.;Bachman, Lori A.;Marmorstein, Alan D.
通讯作者：
Marmorstein, Alan D.
影响因子：
4.4
作者：
Zhang, Yu;Morgan, Richard;Rosenblatt, Joseph D.
通讯作者：
Rosenblatt, Joseph D.