Whole-Exome Sequencing Identified DLG1 as a Candidate Gene for Familial Exudative Vitreoretinopathy,Genetic Testing and Molecular Biomarkers

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Whole-Exome Sequencing Identified DLG1 as a Candidate Gene for Familial Exudative Vitreoretinopathy
Genetic Testing and Molecular Biomarkers ( IF 1.4 ) Pub Date : 2021-05-17 , DOI: 10.1089/gtmb.2021.0013
Shanshan Zhang _{1,

2} , Xiao Li _{1,

2} , Wenjing Liu _{1,

2} , Xiang Zhang ₃ , Lulin Huang _{1,

2} , Shujin Li _{1,

2,

4} , Mu Yang _{1,

2,

4} , Peiquan Zhao ₃ , Jiyun Yang _{1,

2} , Ping Fei ₃ , Xianjun Zhu _{1,

2,

4} , Zhenglin Yang _{1,

2,

4}

Affiliation

Purpose: Familial exudative vitreoretinopathy (FEVR) is a blinding retinal vascular disease. Clinically, FEVR is characterized by incomplete vascularization of the peripheral retina and pathological neovascularization. Only about 50% of FEVR cases can be explained by known FEVR disease gene variations. This study aimed to identify novel genes associated with the FEVR phenotype and explore their pathogenic mechanisms.

中文翻译：

全外显子组测序将 DLG1 鉴定为家族性渗出性玻璃体视网膜病变的候选基因

目的：家族性渗出性玻璃体视网膜病变（FEVR）是一种致盲性视网膜血管疾病。临床上，FEVR 的特点是周围视网膜血管化不完全和病理性新生血管化。只有大约 50% 的 FEVR 病例可以用已知的 FEVR 疾病基因变异来解释。本研究旨在鉴定与 FEVR 表型相关的新基因并探索其致病机制。

更新日期：2021-05-19

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