Congenital dyserythropoietic anemia type 1: A case with novel compound heterozygous mutations in the C15orf41 gene

被引:5
|
作者
Palmblad, Jan [1 ,2 ,3 ]
Sander, Birgitta [3 ,4 ]
Bain, Barbara [5 ]
Klimkowska, Monika [3 ,4 ]
Bjoerck, Erik [3 ,6 ]
机构
[1] Karolinska Univ Hosp, Dept Hematol, Stockholm, Sweden
[2] Karolinska Univ Hosp, Dept Med, Stockholm, Sweden
[3] Karolinska Inst, Stockholm, Sweden
[4] Karolinska Univ Hosp, Dept Lab Med, Div Pathol, Stockholm, Sweden
[5] Imperial Coll London, St Marys Hosp, Fac Med, Ctr Haematol, London, England
[6] Karolinska Univ Hosp, Dept Mol Med & Surg, Clin Genet, Stockholm, Sweden
关键词
D O I
10.1002/ajh.25157
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:E213 / E215
页数:3
相关论文
共 50 条
  • [1] Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein
    Russo, Roberta
    Marra, Roberta
    Andolfo, Immacolata
    De Rosa, Gianluca
    Rosato, Barbara Eleni
    Manna, Francesco
    Gambale, Antonella
    Raia, Maddalena
    Unal, Sule
    Barella, Susanna
    Iolascon, Achille
    FRONTIERS IN PHYSIOLOGY, 2019, 10
  • [2] Identification of CDAN1, C15ORF41 and SEC23B mutations in Chinese patients affected by congenital dyserythropoietic anemia
    Wang, Yongwei
    Ru, Yongxin
    Liu, Gang
    Dong, Shuxu
    Li, Yuan
    Zhu, Xiaofan
    Zhang, Fengkui
    Chang, Yan-Zhong
    Nie, Guangjun
    GENE, 2018, 640 : 73 - 78
  • [3] Characterization of the interactions between Codanin-1 and C15Orf41, two proteins implicated in congenital dyserythropoietic anemia type I disease
    Grace Swickley
    Yehoshua Bloch
    Lidor Malka
    Adi Meiri
    Sharon Noy-Lotan
    Amiel Yanai
    Hannah Tamary
    Benny Motro
    BMC Molecular and Cell Biology, 21
  • [4] Characterization of the interactions between Codanin-1 and C15Orf41, two proteins implicated in congenital dyserythropoietic anemia type I disease
    Swickley, Grace
    Bloch, Yehoshua
    Malka, Lidor
    Meiri, Adi
    Noy-Lotan, Sharon
    Yanai, Amiel
    Tamary, Hannah
    Motro, Benny
    BMC MOLECULAR AND CELL BIOLOGY, 2020, 21 (01)
  • [5] Fetal presentation of congenital dyserythropoietic anemia type 1 with novel compound heterozygous CDAN1 mutations
    Meznarich, Jessica A.
    Drapera, Lauren
    Christensen, Robert D.
    Yaish, Hassan M.
    Luem, Nick D.
    Pysher, Theodore J.
    Jung, Grace
    Nemeth, Elizabeta
    Ganz, Tomas
    Ward, Diane M.
    BLOOD CELLS MOLECULES AND DISEASES, 2018, 71 : 63 - 66
  • [6] C15ORF41 (C.398A>T (ASP133VAL)): NEW MUTATION ASSOCIATED WITH TYPE I CONGENITAL DYSERYTHROPOIETIC ANEMIA
    Rocha, S. P.
    Magalhaes, M. T.
    Ramalheira, S.
    Almeida, H.
    Pereira, J.
    Maia, R.
    Jollerstrom, P.
    Bento, C.
    Ribeiro, M. L.
    HAEMATOLOGICA, 2015, 100 : 30 - 30
  • [7] High intrafamilial variability in a C15orf41 associated Congenital Dyserythropoietic Anemia family indicates involvement of C2orf69 in infantile epilepsy
    Gurel, A.
    Unal, S.
    Yarali, N.
    Kiper, P. Simsek
    Ceylaner, S.
    Bilir, O. A.
    Gumruk, F.
    Akarsu, N. A.
    Cetinkaya, A.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 302 - 302
  • [8] Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein (vol 10, 621, 2019)
    Russo, Roberta
    Marra, Roberta
    Andolfo, Immacolata
    De Rosa, Gianluca
    Rosato, Barbara Eleni
    Manna, Francesco
    Gambale, Antonella
    Raia, Maddalena
    Unal, Sule
    Barella, Susanna
    Iolascon, Achille
    FRONTIERS IN PHYSIOLOGY, 2020, 11
  • [9] A complex comprising C15ORF41 and Codanin-1: the products of two genes mutated in congenital dyserythropoietic anaemia type I (CDA-I)
    Shroff, Maithili
    Knebel, Axel
    Toth, Rachel
    Rouse, John
    BIOCHEMICAL JOURNAL, 2020, 477 (10) : 1893 - 1905
  • [10] Compound heterozygosity for two novel mutations of the SEC23B gene in congenital dyserythropoietic anemia type II
    Shanshan Chen
    Ziwen Guo
    Yongbin Ye
    Shanhong Yang
    Guinian Huang
    International Journal of Hematology, 2021, 114 : 390 - 394