De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy and autism spectrum disorder

被引：0

作者：

Sleyp, Yoeri ^{[1
]}

Valenzuela, Irene ^{[2
,3
]}

Accogli, Andrea ^{[4
,5
]}

Ballon, Katleen ^{[6
]}

Ben-Zeev, Bruria ^{[7
,8
]}

Berkovic, Sam ^{[9
,10
,11
]}

Broly, Martin ^{[12
,13
]}

Callaerts, Patrick ^{[1
]}

Caylor, Raymond ^{[14
]}

Charles, Perrine ^{[15
]}

Chatron, Nicolas ^{[16
,17
]}

Cohen, Lior ^{[18
,19
]}

Coppola, Antonietta ^{[20
]}

Cordeiro, Dawn ^{[21
]}

Cuccurullo, Claudia

Cusco, Ivon ^{[2
,3
]}

diMonda, Janette ^{[22
]}

Duran-Romana, Ramon ^{[23
,24
]}

Ehilevitch, Nina ^{[25
,27
]}

Fernandez-Alvarez, Paula ^{[2
,3
]}

Gordon, Chris ^{[26
]}

Isidor, Bertrand

Keren, Boris ^{[28
,29
]}

Lesca, Gaetan

Maljaars, Jarymke ^{[30
]}

Mercimek-Andrews, Saadet ^{[21
,31
,32
]}

Morrow, Michelle ^{[33
]}

Muir, Alison ^{[31
,32
,34
,35
]}

Rousseau, Frederic ^{[24
]}

Salpietro, Vincenzo ^{[36
]}

Scheffer, Ingrid ^{[9
,10
,11
,37
,38
]}

Schnur, Rhonda

Schymkowitz, Joost

Souche, Erika ^{[39
]}

Steyaert, Jean ^{[40
]}

Stolerman, Elliot

Vengoechea, Jaime ^{[41
]}

Ville, Dorothee ^{[42
]}

Washington, Camerun

Weiss, Karin ^{[25
,43
]}

Zaid, Rinat

Sadleir, Lynette ^{[44
]}

Mefford, Heather ^{[45
]}

Peeters, Hilde ^{[38
]}

机构：

[1] Katholieke Univ Leuven, Dept Human Genet, Leuven, Belgium

[2] Univ Hosp Vall dHebron, Barcelona, Spain

[3] Med Genet Grp & Vall dHebron Res Inst, Dept Clin & Mol Genet, Barcelona, Spain

[4] IRRCS Ist Giannina Gaslini, Med Genet Unit, Genoa, Italy

[5] Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy

[6] Univ Hosp Leuven, Ctr Dev Disabil, Leuven, Belgium

[7] Edmond & Lily Safra Pediat Hosp & Sheba Med Ctr, Pediat Neurol Dept, Ramat Gan, Israel

[8] Tel Aviv Univ, Sackler Sch Med, Tel Aviv, Israel

[9] Univ Melbourne, Heidelberg, Vic, Australia

[10] Austin Hlth, Dept Med, Heidelberg, Vic, Australia

[11] Epilepsy Res Ctr, Heidelberg, Vic, Australia

[12] CHU Nantes, Serv Genet Med, Nantes, France

[13] Swiss Inst Genom Med, Medigenome, Geneva, Switzerland

[14] Greenwood Genet Ctr, Greenwood, SC 29646 USA

[15] Salpetriere Hosp, AP HP, Genet Dept & Reference Ctr Rare Intellectual Disa, Paris, France

[16] Univ Claude Bernard Lyon 1, Hosp Civils Lyon, Dept Med Genet, Lyon, France

[17] Univ Claude Bernard Lyon 1, NeuroMyogene Inst, CNRS UMR 5310, INSERM U1217,Dept Med Genet, Lyon, France

[18] Barzilai Univ Med Ctr, Genet Inst, Ashqelon, Israel

[19] Ben Gurion Univ Negev, Fac Hlth Sci, Beer Sheva, Israel

[20] Univ Naples Federico II, Dept Neurosci & Reprod & Odontostomatol Sci, Naples, Italy

[21] Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada

[22] Emory Healthcare, Dept Human Genet, Atlanta, GA USA

[23] VIB KU Leuven Ctr Brain & Dis Res, SWITCH Lab, Leuven, Belgium

[24] Katholieke Univ Leuven, Dept Cellular & Mol Med, Leuven, Belgium

[25] Genet Inst Inc, Rambam Hlth Care Campus, Haifa, Israel

[26] Inst Natl Sante & Rech Med INSERM & Inst Imagine, Paris, France

[27] Univ Paris, Lab Embryol & Genet Human Malformat, Paris, France

[28] Sorbonne Univ, AP HP, Paris, France

[29] Hop La Pitie Salpetriere, Dept Genet, Paris, France

[30] Katholieke Univ Leuven, Parenting & Special Educ Res Unit, Leuven, Belgium

[31] Univ Alberta, Dept Med Genet, Edmonton, AB, Canada

[32] Univ Alberta, Fac Med & Dent, Edmonton, AB, Canada

[33] GeneDx, Gaithersburg, MD USA

[34] Univ Washington, Div Med Genet, Seattle, WA USA

[35] Univ Washington, Dept Pediat, Seattle, WA USA

[36] IRRCS Ist Giannina Gaslini, Pediat Neurol & Muscular Dis Unit, Genoa, Italy

[37] Univ Melbourne, Melbourne, Vic, Australia

[38] Royal Childrens Hosp, Dept Paediat, Melbourne, Vic, Australia

[39] Univ Hosp Leuven, Ctr Human Genet, Leuven, Belgium

[40] Katholieke Univ Leuven, Ctr Dev Psychiat, Leuven, Belgium

[41] Emory Univ, Dept Human Genet, Atlanta, GA USA

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

[43] Technion Israel Inst Technol, Ruth & Bruce Rappaport Fac Med, Haifa, Israel

[44] Univ Otago, Dept Paediat & Child Hlth, Wellington, New Zealand

[45] St Jude Childrens Res Hosp, Ctr Pediat Neurol Dis Res, Memphis, TN 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：

C01.5

引用

页码：8 / 9

页数：2

共 36 条

[1] De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder
Sleyp, Yoeri
Valenzuela, Irene
Accogli, Andrea
Ballon, Katleen
Ben-Zeev, Bruria
Berkovic, Samuel F.
Broly, Martin
Callaerts, Patrick
Caylor, Raymond C.
Charles, Perrine
Chatron, Nicolas
Cohen, Lior
Coppola, Antonietta
Cordeiro, Dawn
Cuccurullo, Claudia
Cusco, Ivon
Cusco, Ivon
Duran-Romana, Ramon
Ekhilevitch, Nina
Fernandez-Alvarez, Paula
Gordon, Christopher T.
Isidor, Bertrand
Keren, Boris
Lesca, Gaetan
Maljaars, Jarymke
Mercimek-Andrews, Saadet
Morrow, Michelle M.
Muir, Alison M.
Rousseau, Frederic
Salpietro, Vincenzo
Scheffer, Ingrid E.
Schnur, Rhonda E.
Schymkowitz, Joost
Souche, Erika
Steyaert, Jean
Stolerman, Elliot S.
Vengoechea, Jaime
Ville, Dorothee
Washington, Camerun
Weiss, Karin
Zaid, Rinat
Sadleir, Lynette G.
Mefford, Heather C.
Peeters, Hilde
GENETICS IN MEDICINE, 2022, 24 (12) : 2464 - 2474
[2] De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences
Hiraide, Takuya
Hattori, Ayako
Ieda, Daisuke
Hori, Ikumi
Saitoh, Shinji
Nakashima, Mitsuko
Saitsu, Hirotomo
EPILEPSIA OPEN, 2019, 4 (03) : 476 - 481
[3] De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity
Tessarech, Marine
Friocourt, Gaelle
Marguet, Florent
Lecointre, Maryline
Le Mao, Morgane
Diaz, Rodrigo Munoz
Mignot, Cyril
Keren, Boris
Heron, Benedicte
De Bie, Charlotte
Van Gassen, Koen
Loisel, Didier
Delorme, Benoit
Syrbe, Steffen
Klabunde-Cherwon, Annick
Abou Jamra, Rami
Wegler, Meret
Callewaert, Bert
Dheedene, Annelies
Zidane-Marinnes, Merzouka
Guichet, Agnes
Bris, Celine
Van Bogaert, Patrick
Biquard, Florence
Lenaers, Guy
Marcorelles, Pascale
Ferec, Claude
Gonzalez, Bruno
Procaccio, Vincent
Vitobello, Antonio
Bonneau, Dominique
Laquerriere, Annie
Khiati, Salim
Colin, Estelle
GENETICS IN MEDICINE, 2024, 26 (05)
[4] De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity
Tessarech, Marine
Friocourt, Gaelle
Marguet, Florent
Lecointre, Maryline
Morgane, Le Mao
Mignot, Cyril
Keren, Boris
Heron, Benedicte
De Bie, Charlotte
Van Gassen, Koen
Loisel, Didier
Delorme, Benoit
Syrbe, Steffen
Diaz, Rodrigo Munoz
Annick, Klabunde-Cherwon
Abou Jamra, Rami
Wegler, Meret
Callewaert, Bert
Dheedene, Annelies
Zidane-Marinnes, Merzouka
Guichet, Agnes
Bris, Celine
Van Bogaert, Patrick
Biquard, Florence
Lenaers, Guy
Marcorelles, Pascale
Ferec, Claude
Gonzales, Bruno
Procaccio, Vincent
Vitobello, Antonio
Bonneau, Dominique
Laquerriere, Annie
Khiati, Salim
Colin, Estelle
EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1060 - 1061
[5] Genotype-phenotype correlation associated with de novo missense variants in TRRAP: from autism spectrum disorder to syndromic intellectual disability
Cogne, B.
Beauregard-Lacroix, E.
Rousseau, J.
Ehresmann, S.
Garcia, T.
Gordon, C.
von der Lippe, C.
Skraban, C.
Johnston, J.
Lehman, A.
Parent, P.
Gilbert-Dussardier, B.
McWalter, K.
Cho, M. T.
Kini, U.
Akdemir, Z. Coban
Punetha, J.
Jhangiani, S.
Song, X.
Scott, D. A.
Stray-Pedersen, A.
Blackburn, P.
Cohen, J. S.
Stessman, H.
Blyth, M.
Berg, J.
Gerkes, E.
Shashi, V.
Sullivan, J.
Goldstein, D. B.
Redon, R.
Lupski, J. R.
Bolduc, F.
Bezieau, S.
Kury, S.
Campeau, P. M.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 245 - 246
[6] A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder
Maria Barington
Lotte Risom
Jakob Ek
Peter Uldall
Elsebet Ostergaard
European Journal of Human Genetics, 2018, 26 : 1388 - 1391
[7] A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder
Barington, Maria
Risom, Lotte
Ek, Jakob
Uldall, Peter
Ostergaard, Elsebet
EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 (09) : 1388 - 1391
[8] De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy
Usmani, Muhammad A.
Ahmed, Zubair M.
Magini, Pamela
Pienkowski, Victor Murcia
Rasmussen, Kristen J.
Hernan, Rebecca
Rasheed, Faiza
Hussain, Mureed
Shahzad, Mohsin
Lanpher, Brendan C.
Niu, Zhiyv
Lim, Foong-Yen
Pippucci, Tommaso
Ploski, Rafal
Kraus, Verena
Matuszewska, Karolina
Palombo, Flavia
Kianmahd, Jessica
Martinez-Agosto, Julian A.
Lee, Hane
Colao, Emma
Motazacker, M. Mahdi
Brigatti, Karlla W.
Puffenberger, Erik G.
Riazuddin, S. Amer
Gonzaga-Jauregui, Claudia
Chung, Wendy K.
Wagner, Matias
Schultz, Matthew J.
Seri, Marco
Kievit, Anneke J. A.
Perrotti, Nicola
Wassink-Ruiter, J. S. Klein
van Bokhoven, Hans
Riazuddin, Sheikh
Riazuddin, Saima
AMERICAN JOURNAL OF HUMAN GENETICS, 2021, 108 (07) : 1330 - 1341
[9] Divergent Associations of Rare De Novo Protein-Truncating Variants and Missense Mutations With Developmental Delays in Autism Spectrum Disorder
Kuo, Susan S.
van der Merwe, Celia
Carey, Caitlin
Bishop, Somer
Robinson, Elise
BIOLOGICAL PSYCHIATRY, 2021, 89 (09) : S135 - S136
[10] Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder
Frints, Suzanna G. M.
Ozanturk, Aysegul
Rodriguez Criado, German
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de Hoon, Bas
Field, Michael
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Kammoun, Molka
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MOLECULAR PSYCHIATRY, 2019, 24 (11) : 1748 - 1768

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