Novel REEP6 gene mutation associated with autosomal recessive retinitis pigmentosa

被引：0
|
作者：
Yuchen Lin
Christine L. Xu
Gabriel Velez
Jing Yang
Akemi J. Tanaka
Mark P. Breazzano
Vinit B. Mahajan
Janet R. Sparrow
Stephen H. Tsang
机构：
[1] Columbia University,Jonas Children’s Vision Care, and Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative, Departments of Ophthalmology, Pathology and Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surg
[2] Zhejiang University,Eye Center, Second Affiliated Hospital, School of Medicine
[3] New York-Presbyterian Hospital,Edward S. Harkness Eye Institute
[4] Stanford University,Omics Laboratory, Department of Ophthalmology, Byers Eye Institute
[5] University of Iowa,Medical Scientist Training Program
[6] Veterans Affairs Palo Alto Health Care System,Department of Pathology and Cell Biology
[7] Columbia University Medical Center,Department of Ophthalmology
[8] New York University School of Medicine,undefined
来源：
Documenta Ophthalmologica | 2020年 / 140卷
关键词：
Retinitis pigmentosa; REEP6; Autosomal recessive; Whole exome sequencing;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：67 / 75
页数：8
相关论文
共 50 条
  • [1] Novel REEP6 gene mutation associated with autosomal recessive retinitis pigmentosa
    Lin, Yuchen
    Xu, Christine L.
    Velez, Gabriel
    Yang, Jing
    Tanaka, Akemi J.
    Breazzano, Mark P.
    Mahajan, Vinit B.
    Sparrow, Janet R.
    Tsang, Stephen H.
    DOCUMENTA OPHTHALMOLOGICA, 2020, 140 (01) : 67 - 75
  • [2] Autosomal Recessive Retinitis Pigmentosa Associated with Three Novel REEP6 Variants in Chinese Population
    Zhang, Lujia
    Li, Ya
    Qin, Litao
    Wu, Yu
    Lei, Bo
    GENES, 2021, 12 (04)
  • [3] Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa
    Arno, Gavin
    Agrawal, Smriti A.
    Eblimit, Aiden
    Bellingham, James
    Xu, Mingchu
    Wang, Feng
    Chakarova, Christina
    Parfitt, David A.
    Lane, Amelia
    Burgoyne, Thomas
    Hull, Sarah
    Carss, Keren J.
    Fiorentino, Alessia
    Hayes, Matthew J.
    Munro, Peter M.
    Nicols, Ralph
    Pontikos, Nikolas
    Holder, Graham E.
    Asomugha, Chinwe
    Raymond, F. Lucy
    Moore, Anthony T.
    Plagnol, Vincent
    Michaelides, Michel
    Hardcastle, Alison J.
    Li, Yumei
    Cukras, Catherine
    Webster, Andrew R.
    Cheetham, Michael E.
    Chen, Rui
    AMERICAN JOURNAL OF HUMAN GENETICS, 2016, 99 (06) : 1305 - 1315
  • [4] An intronic REEP6 variant affecting the splicing of a retina -specific exon causes autosomal recessive retinitis pigmentosa in Palestinian patients
    Salameh, Manar Ismail
    Panneman, Daan
    Roosing, Susanne
    Cremers, Frans
    Khateb, Samer
    Swaiti, Yahya
    Saleh, Wissam
    Banin, Eyal
    Talbishi, Alaa
    Sharon, Dror
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2024, 65 (07)
  • [5] Identification of a novel mutation in the PRCD gene causing autosomal recessive retinitis pigmentosa in a Turkish family
    Zobor, Ditta
    Pach, Johanna
    Gekeler, Florian
    Kohl, Susanne
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2013, 54 (15)
  • [6] Identification of a novel mutation in the PRCD gene causing autosomal recessive retinitis pigmentosa in a Turkish family
    Pach, Johanna
    Kohl, Susanne
    Gekeler, Florian
    Zobor, Ditta
    MOLECULAR VISION, 2013, 19 : 1350 - 1355
  • [7] A novel nonsense mutation in Rhodopsin gene in two Indonesian Families with Autosomal Recessive Retinitis Pigmentosa
    Kartasasmita, Arief
    Fujiki, Keiko
    Iskandar, Erwin
    Sovani, Iwan
    Fujimaki, Takuro
    Murakami, Akira
    OPHTHALMIC GENETICS, 2011, 32 (01) : 57 - 63
  • [8] A novel homozygous TUB mutation associated with autosomal recessive retinitis pigmentosa in a consanguineous Chinese family
    Xu, Wei
    Xu, Ming
    Yin, Qinqin
    Liu, Chuangyi
    Cao, Qiuxiang
    Deng, Yun
    Liu, Sulai
    He, Guiyun
    BMC MEDICAL GENOMICS, 2023, 16 (01)
  • [9] A novel homozygous TUB mutation associated with autosomal recessive retinitis pigmentosa in a consanguineous Chinese family
    Wei Xu
    Ming Xu
    Qinqin Yin
    Chuangyi Liu
    Qiuxiang Cao
    Yun Deng
    Sulai Liu
    Guiyun He
    BMC Medical Genomics, 16
  • [10] A Homozygous Missense Mutation in the IRBP Gene (RBP3) Associated with Autosomal Recessive Retinitis Pigmentosa
    den Hollander, Anneke I.
    McGee, Terri L.
    Ziviello, Carmela
    Banfi, Sandro
    Dryja, Thaddeus P.
    Gonzalez-Fernandez, Federico
    Ghosh, Debashis
    Berson, Eliot L.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2009, 50 (04) : 1864 - 1872
12345