Coding and non-coding structural variants of ABCA4 contribute to the missing heritability in Stargardt disease, a prevalent inherited retinal disease

被引:0
|
作者
Bauwens, M. [1 ]
Naessens, S. [1 ]
Van Cauwenbergh, C. [1 ,2 ,3 ]
Van Laethem, T. [1 ]
De Jaegere, S. [1 ]
Balikova, I. [2 ,3 ]
Sznajer, Y. [4 ]
De Zaeytijd, J. [2 ,3 ]
Leroy, B. P. [2 ,3 ,5 ,6 ]
De Baere, E. [1 ]
机构
[1] Univ Ghent, Ctr Med Genet Ghent, Ghent, Belgium
[2] Univ Ghent, Dept Ophthalmol, Ghent, Belgium
[3] Ghent Univ Hosp, Ghent, Belgium
[4] Catholic Univ Louvain, Clin Univ St Luc, Ctr Genet Humaine, Brussels, Belgium
[5] Childrens Hosp Philadelphia, Div Ophthalmol, Philadelphia, PA 19104 USA
[6] Childrens Hosp Philadelphia, Ctr Cellular & Mol Therapeut, Philadelphia, PA 19104 USA
关键词
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
P02.02A
引用
收藏
页码:42 / 43
页数:2
相关论文
共 50 条
  • [41] ABCA4 gene dysfunction in Stargardt retinal disease: charcaterisation of two new rat transgenic models
    Provost, N.
    Croyal, M.
    Pichard, V.
    Mendes-Madeira, A.
    Libeau, L.
    Tesson, L.
    Adjali, O.
    Cronin, T.
    HUMAN GENE THERAPY, 2019, 30 (11) : A111 - A111
  • [42] Retinal Histopathology in Eyes from a Patient with Stargardt disease caused by Compound Heterozygous ABCA4 Mutations
    Bonilha, Vera L.
    Rayborn, Mary E.
    Bell, Brent A.
    Marino, Meghan J.
    Fishman, Gerald A.
    Hollyfield, Joe G.
    OPHTHALMIC GENETICS, 2016, 37 (02) : 150 - 160
  • [43] Structural and functional characterization of the nucleotide-binding domains of ABCA4 and their role in Stargardt disease
    Scortecci, Jessica Fernandes
    Garces, Fabian A.
    Mahto, Jai K.
    Molday, Laurie L.
    Van Petegem, Filip
    Molday, Robert S.
    JOURNAL OF BIOLOGICAL CHEMISTRY, 2024, 300 (09)
  • [44] Cis-acting modifiers in the ABCA4 locus contribute to the penetrance of the major disease-causing variant in Stargardt disease
    Lee, Winston
    Zernant, Jana
    Nagasaki, Takayuki
    Molday, Laurie L.
    Su, Pei-Yin
    Fishman, Gerald A.
    Tsang, Stephen H.
    Molday, Robert S.
    Allikmets, Rando
    HUMAN MOLECULAR GENETICS, 2021, 30 (14) : 1293 - 1304
  • [45] Exon Editing of ABCA4 rNA in Human Retinal Explants and Non-Human Primate Retina for the Treatment of Stargardt Disease
    Cheng, Ting-Wen
    Noma, Akiko
    Bachmann, John
    Cormier, Tayla
    Manokaran, Sangeetha
    Conor, Delaney
    Faulkner, Jim
    Nelson, Justin
    Olshaw, Brian
    Thresher, Jason
    Wu, Dennis
    Doi, Akiko
    Wager, Carrie
    Ehlers, Michael
    Bell, Robert
    MOLECULAR THERAPY, 2024, 32 (04) : 355 - 356
  • [46] ABCA4 sequence variants in Chinese patients with age-related macular degeneration or Stargardt's disease
    Baum, L
    Chan, WM
    Li, WY
    Lam, DSC
    Wang, PB
    Pang, CP
    OPHTHALMOLOGICA, 2003, 217 (02) : 111 - 114
  • [47] Genetic test results of patients clinically diagnosed with Stargardt disease: Novel ABCA4 variants from Turkey
    Tuncay, Fulya Yaylacioglu
    Acar, Burak
    Yuksel, Murat
    Kayhan, Gulsum
    Ergun, Mehmet Ali
    Ozdek, Sengul
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 961 - 962
  • [48] Rule out compound heterozygous exonic/deep intronic ABCA4 variants in an MNGIE patient with Stargardt disease
    Finsterer, Josef
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2024, 194 (01) : 117 - 118
  • [49] Targeted identification of reported deep-intronic variants in ABCA4 in 224 French Stargardt disease cases
    Dhaenens, Claire-Marie
    Khan, Mubeen
    Devos, Aurore
    Piriou, Charlene
    Elmelik, Duaa
    Manders, Eline
    Goreki, Emeline
    Perdomo, Yaumara
    Dollfus, Helene
    Zanlonghi, Xavier
    Bocquet, Beatrice
    Meunier, Isabelle Anne
    Puech, Bernard
    defoort, Sabine
    Cremers, Frans P.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2019, 60 (09)
  • [50] Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes
    Zernant, Jana
    Lee, Winston
    Nagasaki, Takayuki
    Collison, Frederick T.
    Fishman, Gerald A.
    Bertelsen, Mette
    Rosenberg, Thomas
    Gouras, Peter
    Tsang, Stephen H.
    Allikmets, Rando
    COLD SPRING HARBOR MOLECULAR CASE STUDIES, 2018, 4 (04):