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

[1] Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures
Markus Zweier
Anaïs Begemann
Kirsty McWalter
Megan T. Cho
Lucia Abela
Siddharth Banka
Bettina Behring
Andrea Berger
Chester W. Brown
Maryline Carneiro
Jiani Chen
Gregory M. Cooper
Candice R. Finnila
Maria J. Guillen Sacoto
Alex Henderson
Ulrike Hüffmeier
Pascal Joset
Bronwyn Kerr
Gaetan Lesca
Gloria S. Leszinski
John Henry McDermott
Meira R. Meltzer
Kristin G. Monaghan
Roya Mostafavi
Katrin Õunap
Barbara Plecko
Zöe Powis
Gabriela Purcarin
Tiia Reimand
Korbinian M. Riedhammer
John M. Schreiber
Deepa Sirsi
Klaas J. Wierenga
Monica H. Wojcik
Sorina M. Papuc
Katharina Steindl
Heinrich Sticht
Anita Rauch
European Journal of Human Genetics, 2019, 27 : 747 - 759
[2] Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures
Zweier, Markus
Begemann, Anais
McWalter, Kirsty
Cho, Megan T.
Abela, Lucia
Banka, Siddharth
Behring, Bettina
Berger, Andrea
Brown, Chester W.
Carneiro, Maryline
Chen, Jiani
Cooper, Gregory M.
Finnila, Candice R.
Sacoto, Maria J. Guillen
Henderson, Alex
Huffmeier, Ulrike
Joset, Pascal
Kerr, Bronwyn
Lesca, Gaetan
Leszinski, Gloria S.
McDermott, John Henry
Meltzer, Meira R.
Monaghan, Kristin G.
Mostafavi, Roya
Ounap, Katrin
Plecko, Barbara
Powis, Zoe
Purcarin, Gabriela
Reimand, Tiia
Riedhammer, Korbinian M.
Schreiber, John M.
Sirsi, Deepa
Wierenga, Klaas J.
Wojcik, Monica H.
Papuc, Sorina M.
Steindl, Katharina
Sticht, Heinrich
Rauch, Anita
EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 (05) : 747 - 759
[3] De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy
Nakashima, Mitsuko
Kato, Mitsuhiro
Aoto, Kazushi
Shiina, Masaaki
Belal, Hazrat
Mukaida, Souichi
Kumada, Satoko
Sato, Atsushi
Zerem, Ayelet
Lerman-Sagie, Tally
Lev, Dorit
Leong, Huey Yin
Tsurusaki, Yoshinori
Mizuguchi, Takeshi
Miyatake, Satoko
Miyake, Noriko
Ogata, Kazuhiro
Saitsu, Hirotomo
Matsumoto, Naomichi
ANNALS OF NEUROLOGY, 2018, 83 (04) : 794 - 806
[4] Cytoplasmic FMRP interacting protein 1/2 (CYFIP1/2) expression analysis in autism
Rezvan Noroozi
Mir Davood Omrani
Arezou Sayad
Mohammad Taheri
Soudeh Ghafouri-Fard
Metabolic Brain Disease, 2018, 33 : 1353 - 1358
[5] Cytoplasmic FMRP interacting protein 1/2 (CYFIP1/2) expression analysis in autism
Noroozi, Rezvan
Omrani, Mir Davood
Sayad, Arezou
Taheri, Mohammad
Ghafouri-Fard, Soudeh
METABOLIC BRAIN DISEASE, 2018, 33 (04) : 1353 - 1358
[6] Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability
Tan, Natalie B.
Pagnamenta, Alistair T.
Ferla, Matteo P.
Gadian, Jonathan
Chung, Brian H. Y.
Chan, Marcus C. Y.
Fung, Jasmine L. F.
Cook, Edwin
Guter, Stephen
Boschann, Felix
Heinen, Andre
Schallner, Jens
Mignot, Cyril
Keren, Boris
Whalen, Sandra
Sarret, Catherine
Mittag, Dana
Demmer, Laurie
Stapleton, Rachel
Saida, Ken
Matsumoto, Naomichi
Miyake, Noriko
Sheffer, Ruth
Mor-Shaked, Hagar
Barnett, Christopher P.
Byrne, Alicia B.
Scott, Hamish S.
Kraus, Alison
Cappuccio, Gerarda
Brunetti-Pierri, Nicola
Iorio, Raffaele
Di Dato, Fabiola
Pais, Lynn S.
Yeung, Alison
Tan, Tiong Y.
Taylor, Jenny C.
Christodoulou, John
White, Susan M.
JOURNAL OF MEDICAL GENETICS, 2022, 59 (05) : 511 - 516
[7] ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures
Poggio, Elena
Barazzuol, Lucia
Salmaso, Andrea
Milani, Celeste
Deligiannopoulou, Adamantia
Cazorla, Angeles Garcia
Jang, Se Song
Julia-Palacios, Natalia
Keren, Boris
Kopajtich, Robert
Lynch, Sally Ann
Mignot, Cyril
Moorwood, Catherine
Neuhofer, Christiane
Nigro, Vincenzo
Oostra, Anna
Prokisch, Holger
Saillour, Virginie
Schuermans, Nika
Torella, Annalaura
Verloo, Patrick
Yazbeck, Elise
Zollino, Marcella
Jech, Robert
Winkelmann, Juliane
Necpal, Jan
Cali, Tito
Brini, Marisa
Zech, Michael
GENETICS IN MEDICINE, 2023, 25 (12)
[8] DE NOVO VARIANTS IN KMT2E, A CANDIDATE HAPLOINSUFFICIENT GENE, ARE A NOVEL CAUSE OF INTELLECTUAL DISABILITY
O'Donnell-Luria, Anne
Samocha, Kaitlin
Yogev, Yuval
Kanengisser-Pines, Bibi
Birk, Ohad
Basinger, Alice
Bird, Lynne
Trauner, Doris
Ceulemans, Sophia
Bianchini, Claudia
Abou Jamra, Rami
Escobar, Luis F.
Kroes, Hester Y.
van der Crabben, Saskia
Marcelis, Carlo
Daly, Mark
MacArthur, Daniel
Tan, Wen-Hann
Rodan, Lance
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2018, 176 (06) : 1470 - 1470
[9] De novo mutations in protein kinase genes CAMK2A and CAMK2B cause intellectual disability
Kury, S.
van Woerden, G. M.
Besnard, T.
Latypova, X.
Cho, M. T.
Sanders, S.
Stessman, H. A. F.
Sellars, E. A.
Berg, J.
Waugh, J. L.
Robak, L. A.
Bernstein, J. A.
Deardorff, M.
Hoganson, G. E.
Johnson, D. S.
Dabir, T.
Sarkar, A.
Lesca, G.
Terhal, P. A.
Prescott, T. E.
Grange, D. K.
van Haeringen, A.
Lam, C.
Mirzaa, G.
Helbig, K. L.
Afenjar, A.
Nava, C.
Vitobello, A.
Faivre, L.
Cogne, B.
Rosenfeld, J. A.
Agrawal, P. B.
Odent, S.
Bezieau, S.
Elgersma, Y.
Mercier, S.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 837 - 838
[10] De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
Kury, Sebastien
van Woerden, Geeske M.
Besnard, Thomas
Onori, Martina Proietti
Latypova, Xenia
Towne, Meghan C.
Cho, Megan T.
Prescott, Trine E.
Ploeg, Melissa A.
Sanders, Stephan
Stessman, Holly A. F.
Pujol, Aurora
Ben Distel
Robak, Laurie A.
Bernstein, Jonathan A.
Denomme-Pichon, Anne-Sophie
Lesca, Gaetan
Sellars, Elizabeth A.
Berg, Jonathan
Carre, Wilfrid
Busk, Oyvind Lovold
van Bon, Bregje W. M.
Waugh, Jeff L.
Deardorff, Matthew
Hoganson, George E.
Bosanko, Katherine B.
Johnson, Diana S.
Dabir, Tabib
Holla, Oystein Lunde
Sarkar, Ajoy
Tveten, Kristian
de Bellescize, Julitta
Braathen, Geir J.
Terhal, Paulien A.
Grange, Dorothy K.
van Haeringen, Arie
Lam, Christina
Mirzaa, Ghayda
Burton, Jennifer
Bhoj, Elizabeth J.
Douglas, Jessica
Santani, Avni B.
Nesbitt, Addie I.
Helbig, Katherine L.
Andrews, Marisa V.
Begtrup, Amber
Tang, Sha
van Gassen, Koen L. I.
Juusola, Jane
Foss, Kimberly
AMERICAN JOURNAL OF HUMAN GENETICS, 2017, 101 (05) : 768 - 788

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