Familial autosomal recessive bestrophinopathy: identification of a novel variant in BEST1 gene and the specific metabolomic profile
家族性常染色体隐性遗传性bestrophinopathy:BEST1基因新变异体的鉴定及特异性代谢谱
作者: Panpan YeJia XuYueqiu LuoZhitao SuKe Yao
作者单位: 1Eye Center, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China
2Eye Hospital, Zhejiang University, Hangzhou, China
刊名: BMC Medical Genetics, 2020, Vol.21 (7), pp.45-69
来源数据库: Springer Nature Journal
DOI: 10.1186/s12881-020-0951-3
关键词: Autosomal recessive bestrophinopathyBEST1MutationMetabolomics
英文摘要: Abstract(#br)Background(#br)Autosomal recessive bestrophinopathy (ARB) is a retinal degenerative disorder caused by BEST1 mutations with autosomal recessive inheritance. We aim to map a comprehensive genomic and metabolomic profile of a consanguineous Chinese family with ARB. Methods(#br)Ophthalmic examinations were performed on the affected patients with ARB. The proband was screened for potential causative mutations in a panel with 256 known retinal disease genes by using target capture sequencing. The related mutation was further validated and segregated in the family members by Sanger sequencing. In silico prediction tools were used for pathogenicity assessment. A UHPLC-MS/MS metabolomic analysis was performed to explore the disease-associated metabolic feature. Results(#br)The...
全文获取路径: Springer Nature  (合作)
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影响因子:2.536 (2012)

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