Characterization of de novo variants in PPP2R5C expands the spectrum of PP2A-related neurodevelopmental disorders

被引：0

作者：

Verbinnen, Iris ^{[1
]}

Brimble, Elise ^{[2
]}

Lenaerts, Lisa ^{[1
]}

Genevieve, David ^{[3
]}

Faivre, Laurence ^{[4
]}

Thevenon, Julien ^{[5
]}

Chong, Jessica X. ^{[6
]}

Bamshad, Mike ^{[6
,7
]}

Patterson, Karynne ^{[7
]}

Marco, Elysa ^{[8
]}

Niyazov, Dmitriy ^{[9
]}

Telegrafi, Aida ^{[10
]}

Punj, Sumit ^{[10
]}

Foss, Kimberly ^{[11
]}

Dobyns, William ^{[6
,11
,12
]}

Mirzaa, Ghaydda ^{[6
,11
]}

Fong, Chin-To ^{[13
]}

White, Sue ^{[14
]}

Pais, Lynn ^{[15
]}

O'Heir, Emily ^{[15
,16
]}

van der Merwe, Celia ^{[17
,18
]}

Itzikowitz, Raphaela ^{[19
]}

Donald, Kirsty ^{[19
]}

Roscioli, Tony ^{[20
,21
,22
]}

Dias, Kerith-Rae ^{[22
,23
]}

Evans, Carey-Anne ^{[22
,23
]}

Mussa, Alessandro ^{[24
]}

Cervini, Raffaela ^{[25
]}

Giorgio, Elisa ^{[26
]}

Ruiz, Anna ^{[27
]}

Quintero, Juan Pablo Trujillo ^{[28
]}

Rabin, Rachel ^{[29
]}

Pappas, John ^{[29
]}

Wang, Xiaodong ^{[30
]}

Wang, J. ^{[30
]}

Yuan, Hua ^{[31
]}

Ruzhnikov, Maura R. Z. ^{[32
]}

Janssens, Veerle ^{[1
]}

机构：

[1] Univ Leuven, Dept Cellular & Mol Med, Lab Prot Phosphorylat & Prote, Leuven, Belgium

[2] Invitae, San Francisco, CA USA

[3] Montpellier Univ, Dept Genet Med Malad Rares & Med Personnalisee, Ctr Reference Anomalies Dev SOOR, Genet Clin,CHU Montpellier,INSERM U1183,ERN ITHAC, Montpellier, France

[4] CHU Dijon Bourgogne, Ctr Genet, Hop Enfants, Hop Francois Mitterrand, Dijon, France

[5] Univ Grenoble Alpes, CNRS UMR 5309, Inst Adv Biosci, Inserm U1209, Grenoble, France

[6] Univ Washington, Div Med Genet, Dept Pediat, Sch Med, Seattle, WA USA

[7] Univ Washington, Dept Genome Sci, Seattle, WA USA

[8] Cortica Healthcare, San Rafael, CA USA

[9] Univ Queensland, Med Genet Ochsner Hlth Syst, Brisbane, Qld, Australia

[10] GeneDx, Gaithersburg, MD USA

[11] Seattle Childrens Res Inst, Ctr Integrat Brain Res, Seattle, WA USA

[12] Univ Washington, Dept Neurol, Seattle, WA USA

[13] Univ Rochester, Dept Pediat, Med Ctr, Rochester, NY USA

[14] Royal Childrens Hosp, VCGS, Victoria, Australia

[15] Broad Inst, Ctr Mendelian Genom, Cambridge, MA USA

[16] Boston Childrens Hosp, Div Genet & Genom, Dept Pediat, Boston, MA USA

[17] Broad Inst, Stanley Ctr Psychiat Res, Cambridge, MA USA

[18] Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA USA

[19] Red Cross War Mem Childrens Hosp, Dept Pediat & Child Hlth, Cape Town, South Africa

[20] Sydney Childrens Hosp, Ctr Clin Genet, Sydney, NSW, Australia

[21] Prince Wales Hosp, NSW Hlth Pathol Randwick Gen, Sydney, NSW, Australia

[22] Univ NSW, Prince Wales Clin Sch, NeuRA, Sydney, NSW, Australia

[23] Univ NSW, Prince Wales Clin Sch, Fac Med, Sydney, NSW, Australia

[24] Univ Torino, Regina Margherita Childrens Hosp, Dept Publ Hlth & Pediat Sci, Turin, Italy

[25] Maria Vittoria Hosp, Child Neuropsychiat Dept, Turin, Italy

[26] Univ Pavia, Dept Mol Med, Pavia, Italy

[27] Univ Autonoma Barcelona, Inst Invest & Innovacio Parc Tauli I3PT, Parc Tauli Hosp Univ, Genet Lab, Sabadell, Spain

[28] Univ Autonoma Barcelona, Inst Invest & Innovacio Parc Tauli I3PT, Parc Tauli Hosp Univ, Unitat Genet Clin,Serv Med Pediat, Sabadell, Spain

[29] NYU, Dept Peds, Clin Genet Serv, Grossman Sch Med, New York, NY USA

[30] Genet Testing Co, Cipher Gene Ltd, Beijing, Peoples R China

[31] Guangxi Med Univ, Affiliated Hosp 1, Dept Pediat, Nanning, Peoples R China

[32] Stanford Med, Dept Pediat, Div Med Genet, Stanford, CA USA

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2023年 / 31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：

P09.020.D

引用

页码：451 / 452

页数：2

共 50 条

[1] Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum
Verbinnen, Iris
Houge, Sofia Douzgou
Hsieh, Tzung-Chien
Lesmann, Hellen
Kirchhoff, Aron
Genevieve, David
Brimble, Elise
Lenaerts, Lisa
Haesen, Dorien
Levy, Rebecca J.
Thevenon, Julien
Faivre, Laurence
Marco, Elysa
Chong, Jessica X.
Bamshad, Mike
Patterson, Karynne
Mirzaa, Ghayda M.
Foss, Kimberly
Dobyns, William
White, Susan M.
Pais, Lynn
O'Heir, Emily
Itzikowitz, Raphaela
Donald, Kirsten A.
van der Merwe, Celia
Mussa, Alessandro
Cervini, Raffaela
Giorgio, Elisa
Roscioli, Tony
Dias, Kerith-Rae
Evans, Carey-Anne
Brown, Natasha J.
Ruiz, Anna
Quintero, Juan Pablo Trujillo
Rabin, Rachel
Pappas, John
Yuan, Hai
Lachlan, Katherine
Thomas, Simon
Devlin, Anita
Wright, Michael
Martin, Richard
Karwowska, Joanna
Posmyk, Renata
Chatron, Nicolas
Stark, Zornitza
Heath, Oliver
Delatycki, Martin
Buchert, Rebecca
Korenke, Georg-Christoph
AMERICAN JOURNAL OF HUMAN GENETICS, 2025, 112 (03)
[2] De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders
Reynhout, Sara
Jansen, Sandra
Haesen, Dorien
van Belle, Siska
de Munnik, Sonja A.
Bongers, Ernie M. H. F.
Schieving, Jolanda H.
Marcelis, Carlo
Amiel, Jeanne
Rio, Marlene
Mclaughlin, Heather
Ladda, Roger
Sell, Susan
Kriek, Marjolein
Peeters-Scholte, Cacha M. P. C. D.
Terhal, Paulien A.
van Gassen, Koen L.
Verbeek, Nienke
Henry, Sonja
Schwoerer, Jessica Scott
Malik, Saleem
Revencu, Nicole
Ferreira, Carlos R.
Macnamara, Ellen
Braakman, Hilde M. H.
Brimble, Elise
Ruznikov, Maura R. Z.
Wagner, Matias
Harrer, Philip
Wieczorek, Dagmar
Kuechler, Alma
Tziperman, Barak
Barel, Ortal
de Vries, Bert B. A.
Gordon, Christopher T.
Janssens, Veerle
Vissers, Lisenka E. L. M.
AMERICAN JOURNAL OF HUMAN GENETICS, 2019, 104 (01) : 139 - 156
[3] De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders (vol 104, pg 139, 2019)
Reynhout, Sara
Jansen, Sandra
Haesen, Dorien
van Belle, Siska
de Munnik, Sonja A.
Bongers, Ernie M. H. F.
Schieving, Jolanda H.
Marcelis, Carlo
Amiel, Jeanne
Rio, Marlene
Mclaughlin, Heather
Ladda, Roger
Sell, Susan
Kriek, Marjolein
Peeters-Scholte, Cacha M. P. C. D.
Terhal, Paulien A.
van Gassen, Koen L.
Verbeek, Nienke
Henry, Sonja
Schwoerer, Jessica Scott
Malik, Saleem
Revencu, Nicole
Ferreira, Carlos R.
Macnamara, Ellen
Braakman, Hilde M. H.
Brimble, Elise
Ruzhnikov, Maura R. Z.
Wagner, Matias
Harrer, Philip
Wieczorek, Dagmar
Kuechler, Alma
Tziperman, Barak
Barel, Ortal
de Vries, Bert B. A.
Gordon, Christopher T.
Janssens, Veerle
Vissers, Lisenka E. L. M.
AMERICAN JOURNAL OF HUMAN GENETICS, 2019, 104 (02) : 357 - 357
[4] Expression and distribution of PPP2R5C gene in leukemia
Zheng, Haitao
Chen, Yu
Chen, Shaohua
Niu, Yuzhe
Yang, Lijian
Li, Bo
Lu, Yuhong
Geng, Suxia
Du, Xin
Li, Yangqiu
JOURNAL OF HEMATOLOGY & ONCOLOGY, 2011, 4
[5] Expression and distribution of PPP2R5C gene in leukemia
Haitao Zheng
Yu Chen
Shaohua Chen
Yuzhe Niu
Lijian Yang
Bo Li
Yuhong Lu
Suxia Geng
Xin Du
Yangqiu Li
Journal of Hematology & Oncology, 4
[6] Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth
Loveday, Chey
Tatton-Brown, Katrina
Clarke, Matthew
Westwood, Isaac
Renwick, Anthony
Ramsay, Emma
Nemeth, Andrea
Campbell, Jennifer
Joss, Shelagh
Gardner, McKinlay
Zachariou, Anna
Elliott, Anna
Ruark, Elise
van Montfort, Rob
Rahman, Nazneen
HUMAN MOLECULAR GENETICS, 2015, 24 (17) : 4775 - 4779
[7] PPP2R5C Couples Hepatic Glucose and Lipid Homeostasis
Cheng, Yong-Sheng
Seibert, Oksana
Kloeting, Nora
Dietrich, Arne
Strassburger, Katrin
Fernandez-Veledo, Sonia
Vendrell, Joan J.
Zorzano, Antonio
Blueher, Matthias
Herzig, Stephan
Diaz, Mauricio Berriel
Teleman, Aurelio A.
PLoS Genetics, 2015, 11 (10):
[8] De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxias
Sandal, Priyanka
Jong, Chian Ju
Merrill, Ronald A.
Kollman, Grace J.
Paden, Austin H.
Bend, Eric G.
Sullivan, Jennifer
Spillmann, Rebecca C.
Shashi, Vandana
Vulto-van Silfhout, Anneke T.
Pfundt, Rolph
de Vries, Bert B. A.
Li, Pan P.
Bicknell, Louise S.
Strack, Stefan
HUMAN MOLECULAR GENETICS, 2024,
[9] LincR-PPP2R5C Promotes Th2 Cell Differentiation Through PPP2R5C/ PP2A by Forming an RNA-DNA Triplex in Allergic Asthma
Ji, Ningfei
Chen, Zhongqi
Wang, Zhengxia
Sun, Wei
Yuan, Qi
Zhang, Xijie
Jia, Xinyu
Wu, Jingjing
Jiang, Jingxian
Song, Meijuan
Xu, Tingting
Liu, Yanan
Ma, Qiyun
Sun, Zhixiao
Bao, Yanmin
Zhang, Mingshun
Huang, Mao
ALLERGY ASTHMA & IMMUNOLOGY RESEARCH, 2024, 16 (01) : 71 - 90
[10] Growth arrest of PPP2R5C and PPP2R5D double knockout mice indicates a genetic interaction and conserved function for these PP2A B subunits
Dyson, Jade J.
Abbasi, Fatima
Varadkar, Prajakta
McCright, Brent
FASEB BIOADVANCES, 2022, 4 (04) : 273 - 282

← 1 2 3 4 5 →