Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

被引：0

作者：

Zweier, M. ^{[1
]}

Begemann, A. ^{[1
,2
]}

McWalter, K. ^{[3
]}

Cho, M. T. ^{[3
]}

Abela, L. ^{[2
,4
]}

Banka, S. ^{[5
,6
]}

Behring, B. ^{[7
]}

Berger, A. ^{[8
]}

Brown, C. W. ^{[9
,10
]}

Carneiro, M. ^{[11
]}

Chen, J. ^{[12
]}

Cooper, G. M. ^{[13
]}

Finnila, C. R. ^{[13
]}

Sacoto, M. J. Guillen ^{[3
]}

Henderson, A. ^{[14
]}

Hueffmeier, U. ^{[15
]}

Joset, P. ^{[1
]}

Kerr, B. ^{[5
,6
]}

Lesca, G. ^{[16
,17
]}

Leszinski, G. S. ^{[18
]}

McDermott, J. H. ^{[5
]}

Meltzer, M. R. ^{[19
]}

Monaghan, K. G. ^{[3
]}

Mostafavi, R. ^{[9
]}

Ounap, K. ^{[20
,21
]}

Plecko, B. ^{[2
,4
,22
]}

Powis, Z. ^{[23
]}

Purcarin, G. ^{[12
]}

Reimand, T. ^{[20
,21
,24
]}

Riedhammer, K. M. ^{[18
,25
]}

Schreiber, J. M. ^{[19
]}

Sirsi, D. ^{[26
]}

Wierenga, K. J. ^{[12
,27
]}

Wojcik, M. H. ^{[28
]}

Papuc, S. M. ^{[1
,29
]}

Steindl, K. ^{[1
]}

Sticht, H. ^{[30
]}

Rauch, A. ^{[1
,2
]}

机构：

[1] Univ Zurich, Inst Med Genet, Zurich, Switzerland

[2] Univ Zurich, Radiz Rare Dis Initiat Zurich, Clin Res Prior Program Rare Dis, Zurich, Switzerland

[3] GeneDx, Gaithersburg, MD USA

[4] Univ Childrens Hosp Zurich, Div Child Neurol, Zurich, Switzerland

[5] Manchester Univ NHS Fdn Trust, St Marys Hosp, Hlth Innovat Manchester, Manchester Ctr Genom Med, Manchester, Lancs, England

[6] Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester, Lancs, England

[7] Klinikum Nuremberg, Dept Pediat, Nurnberg, Germany

[8] Kliniken Nordoberpfalz AG, Klinikum Weiden, Dept Neuropediat, Weiden, Germany

[9] Le Bonheur Childrens Hosp, Memphis, TN USA

[10] Univ Tennessee, Ctr Hlth Sci, Dept Pediat, Div Med Genet, Memphis, TN 38163 USA

[11] Lyon Univ Hosp, Dept Neuropediat, Lyon, France

[12] Univ Oklahoma, Hlth Sci Ctr, Oklahoma City, OK USA

[13] HudsonAlpha Inst Biotechnol, Huntsville, AL USA

[14] Newcastle Upon Tyne Hosp NHS Fdn Trust, Northern Genet Serv, Newcastle Upon Tyne, Tyne & Wear, England

[15] Friedrich Alexander Univ Erlangen Nurnberg FAU, Inst Human Genet, Erlangen, Germany

[16] Lyon Univ Hosp, Dept Med Genet, Lyon, France

[17] Claude Bernard Lyon 1 Univ, INSERM, CNRS, UMR 5292,U1028, Lyon, France

[18] Tech Univ Munich, Klinikum Rechts Isar, Inst Human Genet, Munich, Germany

[19] Childrens Natl Hlth Syst, Washington, DC USA

[20] Univ Tartu, Inst Clin Med, Dept Clin Genet, Tartu, Estonia

[21] Tartu Univ Hosp, Dept Clin Genet, United Labs, Tartu, Estonia

[22] Med Univ Graz, Dept Pediat & Adolescent Med, Div Gen Pediat, Graz, Austria

[23] Ambry Genet, Aliso Viejo, CA USA

[24] Univ Tartu, Inst Biomed & Translat Med, Dept Biomed, Tartu, Estonia

[25] Tech Univ Munich, Dept Nephrol, Klinikum Rechts Isar, Munich, Germany

[26] Univ Texas Southwestern Med Ctr Dallas, Dept Pediat Neurol & Neurotherapeut, Dallas, TX 75390 USA

[27] Mayo Clin Florida, Dept Clin Genom, Jacksonville, FL USA

[28] Broad Inst MIT & Harvard, Cambridge, MA 02142 USA

[29] Victor Babes Natl Inst Pathol, Bucharest, Romania

[30] Friedrich Alexander Univ Erlangen Nurnberg FAU, Emil Fischer Ctr, Inst Biochem, Erlangen, Germany

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：

P08.14C

引用

页码：1383 / 1384

页数：2

共 32 条

[31] 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
[32] 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

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