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
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2019年 / 27卷
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
  • [1] Identification, RNA splice defect assessment and AON correction of non-coding variants of ABCA4 in Stargardt disease
    Albert, Silvia
    Sangermano, Riccardo
    Garanto, Alejandro
    Bauwens, Miriam
    Fakin, Ana
    Van den Born, Ingeborgh
    Webster, Andrew R.
    De Baere, Elfride
    Stoehr, Heidi
    Weber, Bernhard H. F.
    Hoyng, Carel C. B.
    Collin, Rob W. J.
    Cremers, Frans P.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2017, 58 (08)
  • [2] Spectrum of ABCA4 variants in Slovenian patients with Stargardt disease
    Sajovic, Jana
    Meglic, Andrej
    Jarc-Vidmar, Martina
    Hadalin, Vlasta
    Corradi, Zelia
    Cremers, Frans P. M.
    Zernant, Jana
    Allikmets, Rando
    Glavac, Damjan
    Maver, Ales
    Volk, Marija
    Peterlin, Borut
    Hawlina, Marko
    Fakin, Ana
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 368 - 369
  • [3] Variants in the ABCA4 gene in a Brazilian population with Stargardt disease
    Salles, Mariana Vallim
    Motta, Fabiana Louise
    Martin, Renan
    Filippelli-Silva, Rafael
    da Silva, Elton Dias
    Varela, Patricia
    Costa, Karita Antunes
    Chiang, John PeiWen
    Pesquero, Joao Bosco
    Sallum, Juliana-Maria Ferraz
    MOLECULAR VISION, 2018, 24 : 546 - 559
  • [4] Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease
    Braun, Terry A.
    Mullins, Robert F.
    Wagner, Alex H.
    Andorf, Jeaneen L.
    Johnston, Rebecca M.
    Bakall, Benjamin B.
    Deluca, Adam P.
    Fishman, Gerald A.
    Lam, Byron L.
    Weleber, Richard G.
    Cideciyan, Artur V.
    Jacobson, Samuel G.
    Sheffield, Val C.
    Tucker, Budd A.
    Stone, Edwin M.
    HUMAN MOLECULAR GENETICS, 2013, 22 (25) : 5136 - 5145
  • [5] Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides
    Sangermano, Riccardo
    Garanto, Alejandro
    Khan, Mubeen
    Runhart, Esmee H.
    Bauwens, Miriam
    Bax, Nathalie M.
    van den Born, L. Ingeborgh
    Khan, Muhammad Imran
    Cornelis, Stephanie S.
    Verheij, Joke B. G. M.
    Pott, Jan-Willem R.
    Thiadens, Alberta A. H. J.
    Klaver, Caroline C. W.
    Puech, Bernard
    Meunier, Isabelle
    Naessens, Sarah
    Arno, Gavin
    Fakin, Ana
    Carss, Keren J.
    Raymond, F. Lucy
    Webster, Andrew R.
    Dhaenens, Claire-Marie
    Stoehr, Heidi
    Grassmann, Felix
    Weber, Bernhard H. F.
    Hoyng, Carel B.
    De Baere, Elfride
    Albert, Silvia
    Collin, Rob W. J.
    Cremers, Frans P. M.
    GENETICS IN MEDICINE, 2019, 21 (08) : 1751 - 1760
  • [6] Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease
    Stone, Edwin
    Tucker, Budd
    Braun, Terry
    Mullins, Robert
    Wagner, Alex
    Jacobson, Samuel
    Cideciyan, Artur
    Lam, Byron
    Fishman, Gerald
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2013, 54 (15)
  • [7] ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel non-coding splice, cis-regulatory, structural and recurrent hypomorphic variants
    Bauwens, Miriam
    Garanto, Alex
    Sangermano, Riccardo
    Naessens, Sarah
    Weisschuh, Nicole
    De Zaeytijd, Julie
    Khan, Mubeen
    Sadler, Francoise
    Kohl, Susanne
    Wissinger, Bernd
    Cherry, Timothy
    Collin, Rob W. J.
    Cremers, Frans P.
    Leroy, Bart P.
    De Baere, Elfride
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2019, 60 (09)
  • [8] Novel variants of ABCA4 in Han Chinese families with Stargardt disease
    Hu, Fang-Yuan
    Gao, Feng-Juan
    Li, Jian-kang
    Xu, Ping
    Wang, Dan-Dan
    Zhang, Sheng-Hai
    Wu, Ji-Hong
    BMC MEDICAL GENETICS, 2020, 21 (01)
  • [9] Functional characterization of ABCA4 genetic variants related to Stargardt disease
    Bo Min Kim
    Hyo Sook Song
    Jin-Young Kim
    Eun Young Kwon
    Seung Yeon Ha
    Minsuk Kim
    Ji Ha Choi
    Scientific Reports, 12
  • [10] Localization and Functional Analysis of ABCA4 Variants Associated with Stargardt Disease
    Molday, Laurie L.
    Allikmets, Rando
    Molday, Robert S.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2016, 57 (12)
12345