Digenic inheritance of heterozygous RP1L1 and C2orf71 variants in syndromic retinitis pigmentosa

被引:0
|
作者
Cremers, Frans [1 ,2 ]
Liu, Yangfan P. [3 ]
Bosch, Danielle G. M. [1 ,4 ]
Siemiatkowska, Anna M. [1 ,2 ]
Rendtorff, Nanna D. [5 ]
Gilissen, Christian [1 ,2 ]
Boonstra, F. Nienke [4 ]
Moller, Claes [6 ]
Tranebjaerg, Lisbeth [7 ]
Katsanis, Nicholas [3 ]
机构
[1] Radboud Univ Nijmegen, Med Ctr, Human Genet, NL-6525 ED Nijmegen, Netherlands
[2] Radboud Univ Nijmegen, Radboud Inst Mol Life Sci, NL-6525 ED Nijmegen, Netherlands
[3] Duke Univ, Sch Med, Durham, NC USA
[4] Inst Visually Impaired, Zeist, Netherlands
[5] Univ Copenhagen, Copenhagen, Denmark
[6] Fac Med & Hlth, Orebro, Sweden
[7] Univ Copenhagen, Copenhagen, Denmark
关键词
D O I
暂无
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
2857
引用
收藏
页数:3
相关论文
共 50 条
  • [1] Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy
    Liu, Yangfan P.
    Bosch, Danielle G. M.
    Siemiatkowska, Anna M.
    Rendtorfff, Nanna Dahl
    Boonstra, F. Nienke
    Moller, Claes
    Tranebjaerg, Lisbeth
    Katsanis, Nicholas
    Cremers, Frans P. M.
    OPHTHALMIC GENETICS, 2017, 38 (02) : 127 - 132
  • [2] Investigating the role of C2orf71 in the pathogenesis of retinitis pigmentosa
    Serrano, J. C. Corral
    Letteboer, Stef
    Garanto, Alex
    Roepman, Ronald
    Collin, Rob W. J.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2015, 56 (07)
  • [3] RP1L1 variants are associated with retinitis pigmentosa and occult macular dystrophy
    Sergouniotis, Panagiotis
    Davidson, Alice
    Mackay, Donna
    Wright, Genevieve
    Michaelides, Michel
    Holder, Graham
    Robson, Anthony
    Moore, Anthony
    Plagnol, Vincent
    Webster, Andrew
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2013, 54 (15)
  • [4] Discovery and Functional Analysis of a Retinitis Pigmentosa Gene, C2ORF71
    Nishimura, Darryl Y.
    Baye, Lisa M.
    Perveen, Rahat
    Searby, Charles C.
    Avila-Fernandez, Almudena
    Pereiro, Ines
    Ayuso, Carmen
    Valverde, Diana
    Bishop, Paul N.
    Manson, Forbes D. C.
    Urquhart, Jill
    Stone, Edwin M.
    Slusarski, Diane C.
    Black, Graeme C. M.
    Sheffield, Val C.
    AMERICAN JOURNAL OF HUMAN GENETICS, 2010, 86 (05) : 686 - 695
  • [5] New recessive compound heterozygous variants of RP1L1 in RP1L1 maculopathy
    Cao, Wen-Chao
    Chen, Qing-Shan
    Gan, Run
    Huang, Tao
    Yan, Xiao-He
    INTERNATIONAL JOURNAL OF OPHTHALMOLOGY, 2024, 17 (01) : 107 - 112
  • [6] Mutations in C2ORF71 Cause Autosomal-Recessive Retinitis Pigmentosa
    Collin, Rob W. J.
    Safieh, Christine
    Littink, Karin W.
    Shalev, Stavit A.
    Garzozi, Hanna J.
    Rizel, Leah
    Abbasi, Anan H.
    Cremers, Frans P. M.
    den Hollander, Anneke I.
    Klevering, B. Jeroen
    Ben-Yosef, Tamar
    AMERICAN JOURNAL OF HUMAN GENETICS, 2010, 86 (05) : 783 - 788
  • [7] Mutations of a Novel Gene, C2ORF71, Cause Autosomal Recessive Retinitis Pigmentosa
    Collin, R. W. J.
    Safieh, C.
    Cremers, F. P. M.
    Shalev, S. A.
    Garzozi, H. J.
    Rizel, L.
    Den Hollander, A. I.
    Klevering, B. J.
    Ben-Yosef, T.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2010, 51 (13)
  • [8] Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene
    Browne, S
    Daiger, S
    Malone, K
    Heckenlively, J
    Kennan, A
    Humphries, P
    Hughbanks-Wheaton, D
    Birch, D
    Liu, Q
    Pierce, E
    Zuo, J
    Huang, Q
    Donovan, D
    Sullivan, L
    MOLECULAR VISION, 2003, 9 (19-20): : 129 - 137
  • [9] Essential and Synergistic Roles of RP1 and RP1L1 in Rod Photoreceptor Axoneme and Retinitis Pigmentosa
    Yamashita, Tetsuji
    Liu, Jiewu
    Gao, Jiangang
    LeNoue, Sean
    Wang, Changguan
    Kaminoh, Jack
    Bowne, Sara J.
    Sullivan, Lori S.
    Daiger, Stephen P.
    Zhang, Kang
    Fitzgerald, Malinda E. C.
    Kefalov, Vladimir J.
    Zuo, Jian
    JOURNAL OF NEUROSCIENCE, 2009, 29 (31): : 9748 - 9760
  • [10] RP1L1 Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy
    Davidson, Alice E.
    Sergouniotis, Panagiotis I.
    Mackay, Donna S.
    Wright, Genevieve A.
    Waseem, Naushin H.
    Michaelides, Michel
    Holder, Graham E.
    Robson, Anthony G.
    Moore, Anthony T.
    Plagnol, Vincent
    Webster, Andrew R.
    HUMAN MUTATION, 2013, 34 (03) : 506 - 514