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] 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
  • [3] 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
  • [4] 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)
  • [5] SCAPER-associated nonsyndromic autosomal recessive retinitis pigmentosa
    Jauregui, Ruben
    Thomas, Amanda L.
    Liechty, Benjamin
    Velez, Gabriel
    Mahajan, Vinit B.
    Clark, Lorraine
    Tsang, Stephen H.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2019, 179 (02) : 312 - 316
  • [6] A novel RP1 mutation demonstrated in a Turkish family with autosomal recessive retinitis pigmentosa
    Ergun, Mehmet Ali
    Citirik, Mehmet
    Bilgili, Gamze
    Ergun, Sezen Guntekin
    Polat, Gurur
    GENE REPORTS, 2018, 11 : 1 - 5
  • [7] Structural disease progression in PDE6-associated autosomal recessive retinitis pigmentosa
    Takahashi, Vitor K. L.
    Takiuti, Julia T.
    Jauregui, Ruben
    Lima, Luiz H.
    Tsang, Stephen H.
    OPHTHALMIC GENETICS, 2018, 39 (05) : 610 - 614
  • [8] Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosa
    Ksantini, Mohamed
    Lafont, Estele
    Bocquet, Beatrice
    Meunier, Isabelle
    Hamel, Christian P.
    EUROPEAN JOURNAL OF OPHTHALMOLOGY, 2012, 22 (04) : 647 - 653
  • [9] CRB2 mutation causes autosomal recessive retinitis pigmentosa
    Chen, Xue
    Jiang, Chao
    Yang, Daidi
    Sun, Ruxu
    Wang, Min
    Sun, Hong
    Xu, Min
    Zhou, Luyin
    Chen, Mingkang
    Xie, Ping
    Yan, Biao
    Liu, Qinghuai
    Zhao, Chen
    EXPERIMENTAL EYE RESEARCH, 2019, 180 : 164 - 173
  • [10] Mutation Spectrum of EYS in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa
    Barragan, Isabel
    Borrego, Salud
    Ignacio Pieras, Juan
    Gonzalez-del Pozo, Maria
    Santoyo, Javier
    Ayuso, Carmen
    Baiget, Montserrat
    Millan, Jose M.
    Mena, Marcela
    El-Aziz, Mai M. Abd
    Audo, Isabelle
    Zeitz, Christina
    Littink, Karin W.
    Dopazo, Joaquin
    Bhattacharya, Shomi S.
    Antinolo, Guillermo
    HUMAN MUTATION, 2010, 31 (11) : E1772 - E1800
12345