机构：[1]Department of Ophthalmology, Peking University People's Hospital Eye diseases and optometry institute, Beijing, China.[2]Beijing Key Laboratory of Diagnosis and Therapy of Retinal and Choroid Diseases, Beijing, China.[3]College of Optometry, Peking University Health Science Center, Beijing, China.[4]Department of Ophthalmology, Xiamen Eye Center of Xiamen University, Xiamen, China.
To investigate the clinical findings in Chinese patients diagnosed with familial exudative vitreoretinopathy (FEVR) and carrying pathogenic mutations.One hundred twenty unrelated patients with FEVR were enrolled in this study. Genomic DNA and ophthalmic examinations were collected from all the patients and their available relatives. Targeted next-generation sequencing was performed to detect mutations. In silico programs were used to evaluate the pathogenicity of all the mutations.Eighty identified mutations were found in 81 unrelated patients (31/81 in LRP5, 25/81 in FZD4, 12/81 in TSPAN12, 8/81 in NDP, 4/81 in KIF11, and 1/81 in ZNF408). Among those mutations, 53 were novel (23/35 in LRP5, 15/21 in FZD4, 8/11 in TSPAN12, 3/8 in NDP, 3/4 in KIF11, 1/1 in ZNF408). Patients with LRP5, FZD4, TSPAN12, or NDP mutations were mainly classified into stage 4 and stage 5 and one-half of patients with KIF11 mutations were in stage 4. In addition, all the patients in NDP group were found to have bilateral symmetry in FEVR stage.Our results present profound phenotypic variability and a wide mutation spectrum of FEVR in the Chinese population, which could be useful for a precise and comprehensive genetic diagnosis for patients with FEVR in the future.
基金：
National Natural Science Foundation of China
Grant (81470649, 81670870), the National Key Research and
Development Program of China (2020YFC2008200), and the
Science and Technology Innovation Project of Chinese Academy
of Medical Sciences (2019-RC-HL-019).
语种：
外文
PubmedID：
中科院(CAS)分区：
出版当年[2020]版：
大类|3 区医学
小类|2 区眼科学
最新[2023]版：
大类|2 区医学
小类|2 区眼科学
第一作者：
第一作者机构：[1]Department of Ophthalmology, Peking University People's Hospital Eye diseases and optometry institute, Beijing, China.[2]Beijing Key Laboratory of Diagnosis and Therapy of Retinal and Choroid Diseases, Beijing, China.[3]College of Optometry, Peking University Health Science Center, Beijing, China.
通讯作者：
通讯机构：[1]Department of Ophthalmology, Peking University People's Hospital Eye diseases and optometry institute, Beijing, China.[2]Beijing Key Laboratory of Diagnosis and Therapy of Retinal and Choroid Diseases, Beijing, China.[3]College of Optometry, Peking University Health Science Center, Beijing, China.[*1]Department of Ophthalmology, Peking University People’s Hospital, Eye Diseases and Optometry Institute, Beijing Key Laboratory of Diagnosis and Therapy of Retinal and Choroid Diseases, College of Optometry, Peking University Health Science Center, 100044 Beijing, China
推荐引用方式(GB/T 7714)：
Tao Tianchang,Xu Ningda,Li Jiarui,et al.Ocular Features and Mutation Spectrum of Patients With Familial Exudative Vitreoretinopathy.[J].Investigative ophthalmology & visual science.2021,62(15):4.doi:10.1167/iovs.62.15.4.
APA：
Tao Tianchang,Xu Ningda,Li Jiarui,Li Hongyan,Qu Jinfeng...&Huang Lvzhen.(2021).Ocular Features and Mutation Spectrum of Patients With Familial Exudative Vitreoretinopathy..Investigative ophthalmology & visual science,62,(15)
MLA：
Tao Tianchang,et al."Ocular Features and Mutation Spectrum of Patients With Familial Exudative Vitreoretinopathy.".Investigative ophthalmology & visual science 62..15(2021):4
