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

[31] Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features
Jing Zhang
Tomasz Gambin
Bo Yuan
Przemyslaw Szafranski
Jill A. Rosenfeld
Mohammed Al Balwi
Abdulrahman Alswaid
Lihadh Al-Gazali
Aisha M. Al Shamsi
Makanko Komara
Bassam R. Ali
Elizabeth Roeder
Laura McAuley
Daniel S. Roy
David K. Manchester
Pilar Magoulas
Lauren E. King
Vickie Hannig
Dominique Bonneau
Anne-Sophie Denommé-Pichon
Majida Charif
Thomas Besnard
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Benjamin Cogné
Joris Andrieux
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Weimin He
Francesco Vetrini
Patricia A. Ward
Sau Wai Cheung
Weimin Bi
Christine M. Eng
James R. Lupski
Yaping Yang
Ankita Patel
Seema R. Lalani
Fan Xia
Paweł Stankiewicz
Human Genetics, 2017, 136 : 1009 - 1011
[32] Identification of a de novo FOXP1 mutation and incidental discovery of inherited genetic variants contributing to a case of autism spectrum disorder and epilepsy
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MOLECULAR GENETICS & GENOMIC MEDICINE, 2019, 7 (07):
[33] Pathogenic variants inTNRC6Bcause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD
Granadillo, Jorge Luis
P.A. Stegmann, Alexander
Guo, Hui
Xia, Kun
Angle, Brad
Bontempo, Kelly
Ranells, Judith D.
Newkirk, Patricia
Costin, Carrie
Viront, Joleen
Stumpel, Constanze T.
Sinnema, Margje
Panis, Bianca
Pfundt, Rolph
Krapels, Ingrid P. C.
Klaassens, Merel
Nicolai, Joost
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Montenegro, Luciana
Leheup, Bruno
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M. Amudhavalli, Shivarajan
Lawson, Caitlin E.
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Telegrafi, Aida
Pearson, Richard
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JOURNAL OF MEDICAL GENETICS, 2020, 57 (10) : 717 - 724
[34] De novo variants in PHF21A cause intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures: A case report and literature review
Chen, Hui
Chen, Yong
Wu, Huaping
Qiu, Xiaolu
Yu, Xiongying
Wang, Ruiyan
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SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2023, 111 : 138 - 146
[35] Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features (vol 136, pg 377, 2017)
Zhang, Jing
Gambin, Tomasz
Yuan, Bo
Szafranski, Przemyslaw
Rosenfeld, Jill A.
Al Balwi, Mohammed
Alswaid, Abdulrahman
Al-Gazali, Lihadh
Al Shamsi, Aisha M.
Komara, Makanko
Ali, Bassam R.
Roeder, Elizabeth
McAuley, Laura
Roy, Daniel S.
Manchester, David K.
Magoulas, Pilar
King, Lauren E.
Hannig, Vickie
Bonneau, Dominique
Denomme-Pichon, Anne-Sophie
Charif, Majida
Besnard, Thomas
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Vetrini, Francesco
Ward, Patricia A.
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Bi, Weimin
Eng, Christine M.
Lupski, James R.
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Lalani, Seema R.
Xia, Fan
Stankiewicz, Pawel
HUMAN GENETICS, 2017, 136 (08) : 1009 - 1011
[36] De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features
Lehalle, Daphne
Vabres, Pierre
Sorlin, Arthur
Bierhals, Tatjana
Avila, Magali
Carmignac, Virginie
Chevarin, Martin
Torti, Erin
Abe, Yuichi
Bartolomaeus, Tobias
Clayton-Smith, Jill
Cogne, Benjamin
Cusco, Ivon
Duplomb, Laurence
De Bont, Eveline
Duffourd, Yannis
Duijkers, Floor
Elpeleg, Orly
Fattal, Aviva
Genevieve, David
Guillen Sacoto, Maria J.
Guimier, Anne
Harris, David J.
Hempel, Maja
Isidor, Bertrand
Jouan, Thibaud
Kuentz, Paul
Koshimizu, Eriko
Lichtenbelt, Klaske
Loik Ramey, Valerie
Maik, Miriam
Miyakate, Sakoto
Murakami, Yoshiko
Pasquier, Laurent
Pedro, Helio
Simone, Laurie
Sondergaard-Schatz, Krista
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Valenzuela, Irene
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JOURNAL OF MEDICAL GENETICS, 2020, 57 (12) : 808 - 819

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