Identification of a Novel RPS7 Non-Coding Variant in a Rare Form of Diamond-Blackfan Anemia by Whole-Genome Sequencing

被引：0
|
作者：
Wen, T. [1 ]
Bayrak-Toydemir, P. [1 ]
Wen, T. [1 ]
Meznarich, J. [1 ]
Botto, L. [1 ]
Baldwin, E. [1 ]
Andrews, A. [1 ]
Vagher, J. [1 ]
Boyden, S. [1 ]
Nicholas, T. [1 ]
Chapin, A. [2 ]
Fan, E. [1 ]
Mao, R. [1 ]
Bayrak-Toydemir, P. [1 ]
机构：
[1] Univ Utah, Salt Lake City, UT USA
[2] ARUP Labs, Salt Lake City, UT USA
来源：
JOURNAL OF MOLECULAR DIAGNOSTICS | 2023年 / 25卷 / 11期
关键词：
D O I：
暂无
中图分类号：
R36 [病理学];
学科分类号：
100104 ;
摘要：
G056
引用
收藏
页码：S19 / S19
页数：1
相关论文
共 42 条
  • [1] Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele
    Talia Akram
    Ambrin Fatima
    Joakim Klar
    Jan Hoeber
    Muhammad Zakaria
    Muhammad Tariq
    Shahid M. Baig
    Jens Schuster
    Niklas Dahl
    International Journal of Hematology, 2020, 112 : 894 - 899
  • [2] Mutation of the Diamond-Blackfan Anemia Gene Rps7 in Mouse Results in Morphological and Neuroanatomical Phenotypes
    Watkins-Chow, Dawn E.
    Cooke, Joanna
    Pidsley, Ruth
    Edwards, Andrew
    Slotkin, Rebecca
    Leeds, Karen E.
    Mullen, Raymond
    Baxter, Laura L.
    Campbell, Thomas G.
    Salzer, Marion C.
    Biondini, Laura
    Gibney, Gretchen
    Tuy, Francoise Phan Dinh
    Chelly, Jamel
    Morris, H. Douglas
    Riegler, Johannes
    Lythgoe, Mark F.
    Arkell, Ruth M.
    Loreni, Fabrizio
    Flint, Jonathan
    Pavan, William J.
    Keays, David A.
    PLOS GENETICS, 2013, 9 (01):
  • [3] Splice-site variant in the RPS7 5′-UTR leads to a decrease in the mRNA level and development of Diamond-Blackfan anemia
    Skorodumova, Liubov O.
    Davydenko, Ksenia A.
    Filatova, Alexandra Y.
    Skoblov, Mikhail Yu
    Kulemin, Nikolay A.
    Khadzhieva, Maryam B.
    Zakharova, Elena S.
    Gordeeva, Veronika D.
    Smetanina, Nataliya S.
    Fedyushkina, Irina, V
    Anastasevich, Lyudmila A.
    Larin, Sergey S.
    CLINICAL GENETICS, 2023, 103 (01) : 93 - 96
  • [4] A novel missense variant in RPS19 gene causing Diamond-Blackfan anemia 1
    Sansovic, Ivona
    Measic, Ana-Maria
    Kero, Mijana
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 164 - 165
  • [5] Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia
    Ikeda, Fumika
    Yoshida, Kenichi
    Toki, Tsutomu
    Uechi, Tamayo
    Ishida, Shiori
    Nakajima, Yukari
    Sasahara, Yoji
    Okuno, Yusuke
    Kanezaki, Rika
    Terui, Kiminori
    Kamio, Takuya
    Kobayashi, Akie
    Fujita, Takashi
    Sato-Otsubo, Aiko
    Shiraishi, Yuichi
    Tanaka, Hiroko
    Chiba, Kenichi
    Muramatsu, Hideki
    Kanno, Hitoshi
    Ohga, Shouichi
    Ohara, Akira
    Kojima, Seiji
    Kenmochi, Naoya
    Miyano, Satoru
    Ogawa, Seishi
    Ito, Etsuro
    HAEMATOLOGICA, 2017, 102 (03) : E93 - E96
  • [6] Identification of a novel RPS26 nonsense mutation in a Chinese Diamond-Blackfan Anemia patient
    Shi, Xiaodong
    Huang, Xiaolan
    Zhang, Yu
    Cui, Xiaodai
    BMC MEDICAL GENETICS, 2019, 20
  • [7] Missense mutation in RPS7 causes Diamond-Blackfan anemia via alteration of erythrocyte metabolism, protein translation and induction of ribosomal stress
    Kubickova, Agata
    Maceckova, Zuzana
    Vojta, Petr
    Ondra, Martin
    Volejnikova, Jana
    Koralkova, Pavla
    Jungova, Alexandra
    Jahoda, Ondrej
    Mojzikova, Renata
    Hadacova, Ivana
    Cermak, Jaroslav
    Horvathova, Monika
    Pospisilova, Dagmar
    Hajduch, Marian
    BLOOD CELLS MOLECULES AND DISEASES, 2022, 97
  • [8] Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families
    Mirabello, Lisa
    Macari, Elizabeth R.
    Jessop, Lea
    Ellis, Steven R.
    Myers, Timothy
    Giri, Neelam
    Taylor, Alison M.
    McGrath, Katherine E.
    Humphries, Jessica M.
    Ballew, Bari J.
    Yeager, Meredith
    Boland, Joseph F.
    He, Ji
    Hicks, Belynda D.
    Burdett, Laurie
    Alter, Blanche P.
    Zon, Leonard
    Savage, Sharon A.
    BLOOD, 2014, 124 (01) : 24 - 32
  • [9] Identification of novel mutations in patients with Diamond-Blackfan anemia and literature review of RPS10 and RPS26 mutations
    Li, Jing
    Su, Yongfeng
    Chen, Long
    Lin, Yani
    Ru, Kun
    INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, 2023, 45 (05) : 766 - 773
  • [10] Identification of Two New DBA Genes, RPS27 and RPL27, by Whole-Exome Sequencing in Diamond-Blackfan Anemia Patients
    Ito, Etsuro
    Yoshida, Kenichi
    Okuno, Yusuke
    Sato-Otsubo, Aiko
    Toki, Tsutomu
    Miyano, Satoru
    Shiraishi, Yuichi
    Chiba, Kenichi
    Terui, Kiminori
    Wang, RuNan
    Sato, Tomohiko
    Iribe, Yuji
    Ohga, Shouichi
    Kuramitsu, Madoka
    Hamaguchi, Isao
    Ohara, Akira
    Kudo, Kazuko
    Kamimaki, Isamu
    Hara, Junichi
    Sugita, Kanji
    Matsubara, Kousaku
    Koike, Kenichi
    Ishiguro, Akira
    Kawano, Yoshifumi
    Kanno, Hitoshi
    Kojima, Seiji
    Ogawa, Seishi
    BLOOD, 2012, 120 (21)
12345