DNA methylation alterations in the genome of a toddler with cri-du-chat syndrome

被引:3
|
作者
Naumova, Oxana Y. [1 ,2 ]
Rychkov, Sergey Y. [2 ]
Kuznetzova, Tatyana V. [3 ]
Odintsova, Veronika V. [4 ]
Kornilov, Sergey A. [1 ,4 ]
Grigorenko, Elena L. [1 ,4 ]
机构
[1] Univ Houston, Texas Inst Measurement Evaluat & Stat, 4849 Calhoun Rd, Houston, TX 77204 USA
[2] RAS, Vavilov Inst Gen Genet, Lab Human Genet, Moscow, Russia
[3] DO Otts Res Inst Obstet Gynecol & Reproductol, St Petersburg, Russia
[4] St Petersburg State Univ, Dept Psychol, St Petersburg, Russia
来源
CLINICAL CASE REPORTS | 2018年 / 6卷 / 01期
关键词
case study; cri-du-chat syndrome; DNA methylation; Illumina Infinium Human Methylation450;
D O I
10.1002/ccr3.1274
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
This manuscript reports on genomewide epigenetic alterations in cri-du-chat syndrome related to a partial aneusomy of chromosome 5. A systematic analysis of these alterations will open up new possibilities for the prognostic evaluation of CDCS patients and the development of new therapeutic interventions for reducing the severity of the disease.
引用
收藏
页码:14 / 17
页数:4
相关论文
共 50 条
  • [41] CRI-DU-CHAT WITH CHROMOSOMAL MOSAICISM
    ANTICH, J
    RIBASMUN.M
    PRATS, J
    ROCA, M
    LANCET, 1968, 1 (7541): : 538 - &
  • [42] CRI-DU-CHAT - REPORT OF A CASE
    SPARKS, S
    HUTCHINSON, B
    JOURNAL OF COMMUNICATION DISORDERS, 1980, 13 (01) : 9 - 13
  • [43] A clue in the diagnosis of Cri-du-chat syndrome: Pontine hypoplasia
    Uzunhan, Tugce Aksu
    Sayinbatur, Bahattin
    Caliskan, Mine
    Sahin, Ayse
    Aydin, Kubilay
    ANNALS OF INDIAN ACADEMY OF NEUROLOGY, 2014, 17 (02) : 209 - 210
  • [44] 5 CASES OF CRI-DU-CHAT
    MAINARDI, PC
    VIANELLO, MG
    BONIOLI, E
    MINERVA PEDIATRICA, 1976, 28 (38) : 2389 - 2400
  • [45] Adaptive and maladaptive behaviour in children with Cri-du-chat syndrome
    Comish, KM
    Munir, F
    Bramble, D
    JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES, 1998, 11 (03) : 239 - 246
  • [46] Mosaic cri-du-chat syndrome in a girl with a mild phenotype
    Moreira L.M.D.A.
    De Carvalho A.F.L.
    Borja A.L.V.D.F.
    Pinto P.S.P.
    Silveira A.
    De Freitas L.M.
    Falcão M.D.L.L.
    Journal of Applied Genetics, 2008, 49 (4) : 415 - 420
  • [47] Brain Stem Hypoplasia Associated with Cri-du-Chat Syndrome
    Hong, Jin Ho
    Lee, Ha Young
    Lim, Myung Kwan
    Kim, Mi Young
    Kang, Young Hye
    Lee, Kyung Hee
    Cho, Soon Gu
    KOREAN JOURNAL OF RADIOLOGY, 2013, 14 (06) : 960 - 962
  • [48] A new genomic mechanism leading to cri-du-chat syndrome
    South, Sarah T.
    Swensen, Jeffrey J.
    Maxwell, Teresa
    Rope, Alan
    Brothman, Arthur R.
    Chen, Zhong
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (24) : 2714 - 2720
  • [49] Airway evaluation by CT imaging for cri-du-chat syndrome
    Hirofumi Arisaka
    Shigeki Sakuraba
    Masanao Matsumoto
    Homare Kitahama
    Munetaka Furuya
    Kazu-ichi Yoshida
    Junzo Takeda
    Journal of Anesthesia, 2006, 20 (3) : 258 - 259
  • [50] CRI-DU-CHAT SYNDROME RESULTING FROM A FAMILIAL TRANSLOCATION
    TSUJI, K
    NISHI, Y
    NAKANO, R
    KAMIMURA, K
    JAPANESE JOURNAL OF HUMAN GENETICS, 1979, 24 (03): : 162 - 162