Novel neurodevelopmental syndrome due to de novo mutations in chromatin remodeler CHD3 in 35 patients

被引：0
|
作者：
Blok, L. Snijders [1 ,2 ,3 ]
Rousseau, J. [4 ]
Twist, J. [5 ]
Ehresmann, S. [4 ]
Venselaar, H. [1 ]
Takaku, M. [5 ]
Roberts, J. D. [5 ]
Petrovich, R. M. [5 ]
Pfundt, R. [1 ]
Deriziotis, P. [2 ]
Kleefstra, T. [1 ,3 ]
Brunner, H. G. [1 ,3 ,6 ]
Wade, P. A. [5 ]
Fisher, S. E. [2 ,3 ]
Campeau, P. M. [4 ,7 ]
机构：
[1] Radboud Univ Nijmegen, Med Ctr, Nijmegen, Netherlands
[2] Max Planck Inst Psycholinguist, Nijmegen, Netherlands
[3] Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands
[4] CHU St Justine Res Ctr, Montreal, PQ, Canada
[5] NIEHS, POB 12233, Res Triangle Pk, NC 27709 USA
[6] Maastricht Univ, Med Ctr, Maastricht, Netherlands
[7] Univ Montreal, St Justine Hosp, Montreal, PQ, Canada
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：
C09.2
引用
收藏
页码：806 / 806
页数：1
相关论文
共 50 条
  • [31] De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures
    Myers, Candace T.
    Stong, Nicholas
    Mountier, Emily I.
    Helbig, Katherine L.
    Freytag, Saskia
    Sullivan, Joseph E.
    Ben Zeev, Bruria
    Nissenkorn, Andreea
    Tzadok, Michal
    Heimer, Gali
    Shinde, Deepali N.
    Rezazadeh, Arezoo
    Regan, Brigid M.
    Oliver, Karen L.
    Ernst, Michelle E.
    Lippa, Natalie C.
    Mulhern, Maureen S.
    Ren, Zhong
    Poduri, Annapurna
    Andrade, Danielle M.
    Bird, Lynne M.
    Bahlo, Melanie
    Berkovic, Samuel F.
    Lowenstein, Daniel H.
    Scheffer, Ingrid E.
    Sadleir, Lynette G.
    Goldstein, David B.
    Mefford, Heather C.
    Heinzen, Erin L.
    AMERICAN JOURNAL OF HUMAN GENETICS, 2017, 101 (04) : 516 - 524
  • [32] De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder
    Blok, Lot Snijders
    Hiatt, Susan M.
    Bowling, Kevin M.
    Prokop, Jeremy W.
    Engel, Krysta L.
    Cochran, J. Nicholas
    Bebin, E. Martina
    Bijlsma, Emilia K.
    Ruivenkamp, Claudia A. L.
    Terhal, Paulien
    Simon, Marleen E. H.
    Smith, Rosemarie
    Hurst, Jane A.
    McLaughlin, Heather
    Person, Richard
    Crunk, Amy
    Wangler, Michael F.
    Streff, Haley
    Symonds, Joseph D.
    Zuberi, Sameer M.
    Elliott, Katherine S.
    Sanders, Victoria R.
    Masunga, Abigail
    Hopkin, Robert J.
    Dubbs, Holly A.
    Ortiz-Gonzalez, Xilma R.
    Pfundt, Rolph
    Brunner, Han G.
    Fisher, Simon E.
    Kleefstra, Tjitske
    Cooper, Gregory M.
    HUMAN GENETICS, 2018, 137 (05) : 375 - 388
  • [33] De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder
    Lot Snijders Blok
    Susan M. Hiatt
    Kevin M. Bowling
    Jeremy W. Prokop
    Krysta L. Engel
    J. Nicholas Cochran
    E. Martina Bebin
    Emilia K. Bijlsma
    Claudia A. L. Ruivenkamp
    Paulien Terhal
    Marleen E. H. Simon
    Rosemarie Smith
    Jane A. Hurst
    Heather McLaughlin
    Richard Person
    Amy Crunk
    Michael F. Wangler
    Haley Streff
    Joseph D. Symonds
    Sameer M. Zuberi
    Katherine S. Elliott
    Victoria R. Sanders
    Abigail Masunga
    Robert J. Hopkin
    Holly A. Dubbs
    Xilma R. Ortiz-Gonzalez
    Rolph Pfundt
    Han G. Brunner
    Simon E. Fisher
    Tjitske Kleefstra
    Gregory M. Cooper
    Human Genetics, 2018, 137 : 375 - 388
  • [34] De Novo CSNK2B Mutations in Five Cases of Poirier-Bienvenu Neurodevelopmental Syndrome
    Yang, Qi
    Zhang, Qinle
    Yi, Shang
    Qin, Zailong
    Shen, Fei
    Ou, Shang
    Luo, Jingsi
    He, Sheng
    FRONTIERS IN NEUROLOGY, 2022, 13
  • [35] Snijders-Blok-Campeau syndrome (CHD3 gene): Description of seven clinical cases with novel pathogenic variants
    Pascual Vinagre, Patricia
    Tenorio, Jair
    Cazalla, Mario
    Parra, Alejandro
    Silvan, Cristina
    Gallego, Natalia
    Arias, Pedro
    Ramos, Feliciano
    Nevado, Julian
    Lapunzina, Pablo
    Almoguera Castillo, Berta
    Srinivasan, Varunvenkat
    Gowda, Vykuntaraju K.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 489 - 489
  • [36] Novel Overgrowth Syndrome Phenotype Due to Recurrent De Novo PDGFRB Mutation
    Takenouchi, Toshiki
    Yamaguchi, Yu
    Tanikawa, Akiko
    Kosaki, Rika
    Okano, Hideyuki
    Kosaki, Kenjiro
    JOURNAL OF PEDIATRICS, 2015, 166 (02): : 483 - 486
  • [37] Three additional de novo CTCF mutations in Chinese patients help to define an emerging neurodevelopmental disorder
    Chen, Fei
    Yuan, Haiming
    Wu, Wenyong
    Chen, Shaoke
    Yang, Qi
    Wang, Jin
    Zhang, Qiang
    Gui, Baohen
    Fan, Xin
    Chen, Ruimin
    Shen, Yiping
    AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2019, 181 (02) : 218 - 225
  • [38] Two Novel Patients With Bohring-Opitz Syndrome Caused by De Novo ASXL1 Mutations
    Magini, Pamela
    Della Monica, Matteo
    Uzielli, Maria Luisa Giovannucci
    Mongelli, Patrizia
    Scarselli, Gloria
    Gambineri, Eleonora
    Scarano, Gioacchino
    Seri, Marco
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (04) : 917 - 921
  • [39] A novel CHD3 variant in a patient with central precocious puberty: Expanded phenotype of Snijders Blok-Campeau syndrome?
    LeBreton, Laure
    Allain, Eric P.
    Parscan, Radu Christian
    Crapoulet, Nicolas
    Almaghraby, Abdullah
    Ben Amor, Mouna
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2023, 191 (04) : 1065 - 1069
  • [40] Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome
    Wessels, Kathrin
    Bohnhorst, Bettina
    Luhmer, Ingrid
    Morlot, Susanne
    Bohring, Axel
    Jonasson, Jon
    Epplen, Joerg T.
    Gadzicki, Dorothea
    Glaser, Stefanie
    Goehring, Gudrun
    Maelzer, Madeleine
    Hein, Anke
    Arslan-Kirchner, Mine
    Stuhrmann, Manfred
    Schmidtke, Joerg
    Pabst, Brigitte
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2010, 53 (05) : 280 - 285
12345