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

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