Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability

Natalie B Tan; Alistair T Pagnamenta; Matteo P Ferla; Jonathan Gadian; Brian HY Chung; Marcus CY Chan; Jasmine LF Fung; Edwin Cook; Stephen Guter; Felix Boschann; Andre Heinen; Jens Schallner; Cyril Mignot; Boris Keren; Sandra Whalen; Catherine Sarret; Dana Mittag; Laurie Demmer; Rachel Stapleton; Ken Saida; Naomichi Matsumoto; Noriko Miyake; Ruth Sheffer; Hagar Mor-Shaked; Christopher P Barnett; Alicia B Byrne; Hamish S Scott; Alison Kraus; Gerarda Cappuccio; Nicola Brunetti-Pierri; Raffaele Iorio; Fabiola Di Dato; Lynn S Pais; Alison Yeung; Tiong Y Tan; Jenny C Taylor; John Christodoulou; Susan M White

doi:10.1136/jmedgenet-2020-107462

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Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability

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Natalie B Tan Victorian Clinical Genetics Services, Parkville, Victoria 3052, Australia Murdoch Children's Research Institute, Parkville, Victoria 3052, Australia Department of Paediatrics, The University of Melbourne, Parkville 3052, Victoria, Australia PubMed articles Google scholar articles
Alistair T Pagnamenta NIHR Oxford BRC, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK PubMed articles Google scholar articles
Matteo P Ferla NIHR Oxford BRC, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK PubMed articles Google scholar articles
Jonathan Gadian Department of Paediatric Neurology, John Radcliffe Hospital, Oxford, UK PubMed articles Google scholar articles
Brian HY Chung Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, University of Hong Kong, Hong Kong PubMed articles Google scholar articles
Marcus CY Chan Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, University of Hong Kong, Hong Kong PubMed articles Google scholar articles
Jasmine LF Fung Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, University of Hong Kong, Hong Kong PubMed articles Google scholar articles
Edwin Cook Institute for Juvenile Research, Department of Psychiatry, University of Illinois at Chicago, Chicago 60608, Illinois, USA PubMed articles Google scholar articles
Stephen Guter Institute for Juvenile Research, Department of Psychiatry, University of Illinois at Chicago, Chicago 60608, Illinois, USA PubMed articles Google scholar articles
Felix Boschann Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin 13353, Germany PubMed articles Google scholar articles
Andre Heinen Carl Gustav Carus Faculty of Medicine, Children's Hospital, Technical University Dresden, Dresden, Germany PubMed articles Google scholar articles
Jens Schallner Department of Neuropediatrics, Carl Gustav Carus Faculty of Medicine, Children's Hospital, Technical University Dresden, Dresden, Germany PubMed articles Google scholar articles
Cyril Mignot Département de Génétique, Hôpital Pitié-Salpêtrière, APHP.Sorbonne Université, Paris, France PubMed articles Google scholar articles
Boris Keren Département de Génétique, Hôpital Pitié-Salpêtrière, APHP.Sorbonne Université, Paris, France PubMed articles Google scholar articles
Sandra Whalen UF de Génétique Clinique, Centre de Référence Maladies Rares Anomalies du développement et syndromes malformatifs, APHP.Sorbonne Université, Hôpital Armand Trousseau, Paris, France PubMed articles Google scholar articles
Catherine Sarret Service de génétique médicale, Hôpital Estaing, Centre hospitalo-universitaire de Clermont-Ferrand, 63003 Clermont-Ferrand, France PubMed articles Google scholar articles
Dana Mittag Division of Genetics, Levine Children’s Hospital, Carolinas Medical Center, Atrium Health, Charlotte 28232-2861, North Carolina, USA PubMed articles Google scholar articles
Laurie Demmer Division of Genetics, Levine Children’s Hospital, Carolinas Medical Center, Atrium Health, Charlotte 28232-2861, North Carolina, USA PubMed articles Google scholar articles
Rachel Stapleton Genetic Health Service NZ, Christchurch Hospital, Christchurch 8140, New Zealand PubMed articles Google scholar articles
Ken Saida Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan PubMed articles Google scholar articles
Naomichi Matsumoto Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan PubMed articles Google scholar articles
Noriko Miyake Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan PubMed articles Google scholar articles
Ruth Sheffer Department of Human Genetics, Hadassah University Hospital, Jerusalem, Israel PubMed articles Google scholar articles
Hagar Mor-Shaked Department of Human Genetics, Hadassah University Hospital, Jerusalem, Israel PubMed articles Google scholar articles
Christopher P Barnett South Australian Clinical Genetics Service, Women’s and Children’s Hospital, North Adelaide 5006, South Australia, Australia PubMed articles Google scholar articles
Alicia B Byrne Department of Genetics and Molecular Pathology, Centre for Cancer Biology, Adelaide, South Australia, Australia UniSA Clinical and Health Sciences, University of South Australia, Adelaide, South Australia, Australia PubMed articles Google scholar articles
Hamish S Scott Department of Genetics and Molecular Pathology, Centre for Cancer Biology, Adelaide, South Australia, Australia PubMed articles Google scholar articles
Alison Kraus Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds 0113 392 4455, UK Castle Hill Hospital, Cottingham, Hull 01482 622470, UK PubMed articles Google scholar articles
Gerarda Cappuccio Department of Translational Medicine, Section of Pediatrics, Federico II University Hospital, Naples, Italy Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy PubMed articles Google scholar articles
Nicola Brunetti-Pierri Department of Translational Medicine, Section of Pediatrics, Federico II University Hospital, Naples, Italy Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy PubMed articles Google scholar articles
Raffaele Iorio Department of Translational Medicine, Section of Pediatrics, Federico II University Hospital, Naples, Italy PubMed articles Google scholar articles
Fabiola Di Dato Department of Translational Medicine, Section of Pediatrics, Federico II University Hospital, Naples, Italy PubMed articles Google scholar articles
Lynn S Pais Center for Mendelian Genomics, Eli and Edythe L Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA PubMed articles Google scholar articles
Alison Yeung Victorian Clinical Genetics Services, Parkville, Victoria 3052, Australia Murdoch Children's Research Institute, Parkville, Victoria 3052, Australia Department of Paediatrics, The University of Melbourne, Parkville 3052, Victoria, Australia PubMed articles Google scholar articles
Tiong Y Tan Victorian Clinical Genetics Services, Parkville, Victoria 3052, Australia Murdoch Children's Research Institute, Parkville, Victoria 3052, Australia Department of Paediatrics, The University of Melbourne, Parkville 3052, Victoria, Australia PubMed articles Google scholar articles
Jenny C Taylor NIHR Oxford BRC, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK PubMed articles Google scholar articles
John Christodoulou Victorian Clinical Genetics Services, Parkville, Victoria 3052, Australia Murdoch Children's Research Institute, Parkville, Victoria 3052, Australia Department of Paediatrics, The University of Melbourne, Parkville 3052, Victoria, Australia PubMed articles Google scholar articles
Susan M White Victorian Clinical Genetics Services, Parkville, Victoria 3052, Australia Murdoch Children's Research Institute, Parkville, Victoria 3052, Australia Department of Paediatrics, The University of Melbourne, Parkville 3052, Victoria, Australia PubMed articles Google scholar articles

Correspondence to A/Professor Susan M White, Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville 3052, Victoria, Australia; sue.white{at}vcgs.org.au; Professor John Christodoulou, Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville 3052, Victoria, Australia; john.christodoulou{at}mcri.edu.au

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Citation

Tan NB, Pagnamenta AT, Ferla MP, et al

Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability

Journal of Medical Genetics 2022;59:511-516.

Publication history

Received September 17, 2020
Revised March 25, 2021
Accepted April 23, 2021
First published June 28, 2021.

Online issue publication

April 22, 2022

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