Nature Communications (Oct 2020)
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
- Tianyun Wang,
- Kendra Hoekzema,
- Davide Vecchio,
- Huidan Wu,
- Arvis Sulovari,
- Bradley P. Coe,
- Madelyn A. Gillentine,
- Amy B. Wilfert,
- Luis A. Perez-Jurado,
- Malin Kvarnung,
- Yoeri Sleyp,
- Rachel K. Earl,
- Jill A. Rosenfeld,
- Madeleine R. Geisheker,
- Lin Han,
- Bing Du,
- Chris Barnett,
- Elizabeth Thompson,
- Marie Shaw,
- Renee Carroll,
- Kathryn Friend,
- Rachael Catford,
- Elizabeth E. Palmer,
- Xiaobing Zou,
- Jianjun Ou,
- Honghui Li,
- Hui Guo,
- Jennifer Gerdts,
- Emanuela Avola,
- Giuseppe Calabrese,
- Maurizio Elia,
- Donatella Greco,
- Anna Lindstrand,
- Ann Nordgren,
- Britt-Marie Anderlid,
- Geert Vandeweyer,
- Anke Van Dijck,
- Nathalie Van der Aa,
- Brooke McKenna,
- Miroslava Hancarova,
- Sarka Bendova,
- Marketa Havlovicova,
- Giovanni Malerba,
- Bernardo Dalla Bernardina,
- Pierandrea Muglia,
- Arie van Haeringen,
- Mariette J. V. Hoffer,
- Barbara Franke,
- Gerarda Cappuccio,
- Martin Delatycki,
- Paul J. Lockhart,
- Melanie A. Manning,
- Pengfei Liu,
- Ingrid E. Scheffer,
- Nicola Brunetti-Pierri,
- Nanda Rommelse,
- David G. Amaral,
- Gijs W. E. Santen,
- Elisabetta Trabetti,
- Zdeněk Sedláček,
- Jacob J. Michaelson,
- Karen Pierce,
- Eric Courchesne,
- R. Frank Kooy,
- The SPARK Consortium,
- Magnus Nordenskjöld,
- Corrado Romano,
- Hilde Peeters,
- Raphael A. Bernier,
- Jozef Gecz,
- Kun Xia,
- Evan E. Eichler
Affiliations
- Tianyun Wang
- Department of Genome Sciences, University of Washington
- Kendra Hoekzema
- Department of Genome Sciences, University of Washington
- Davide Vecchio
- Rare Disease and Medical Genetics, Academic Department of Pediatrics, Bambino Gesù Children’s Hospital
- Huidan Wu
- Center for Medical Genetics & Hunan Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Central South University
- Arvis Sulovari
- Department of Genome Sciences, University of Washington
- Bradley P. Coe
- Department of Genome Sciences, University of Washington
- Madelyn A. Gillentine
- Department of Genome Sciences, University of Washington
- Amy B. Wilfert
- Department of Genome Sciences, University of Washington
- Luis A. Perez-Jurado
- Paediatric and Reproductive Genetics unit, Women’s and Children’s Hospital
- Malin Kvarnung
- Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet
- Yoeri Sleyp
- Centre for Human Genetics, KU Leuven and Leuven Autism Research (LAuRes)
- Rachel K. Earl
- Department of Psychiatry and Behavioral Sciences, University of Washington
- Jill A. Rosenfeld
- Department of Molecular & Human Genetics, Baylor College of Medicine
- Madeleine R. Geisheker
- Department of Genome Sciences, University of Washington
- Lin Han
- Center for Medical Genetics & Hunan Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Central South University
- Bing Du
- Center for Medical Genetics & Hunan Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Central South University
- Chris Barnett
- Paediatric and Reproductive Genetics unit, Women’s and Children’s Hospital
- Elizabeth Thompson
- Paediatric and Reproductive Genetics unit, Women’s and Children’s Hospital
- Marie Shaw
- Adelaide Medical School and the Robinson Research Institute, the University of Adelaide
- Renee Carroll
- Adelaide Medical School and the Robinson Research Institute, the University of Adelaide
- Kathryn Friend
- Genetics and Molecular Pathology, SA Pathology
- Rachael Catford
- Genetics and Molecular Pathology, SA Pathology
- Elizabeth E. Palmer
- Genetics of Learning Disability Service, Hunter New England Health Service
- Xiaobing Zou
- Children Development Behavior Center, The Third Affiliated Hospital, Sun Yat-Sen University, Guangzhou
- Jianjun Ou
- Mental Health Institute of the Second Xiangya Hospital, Central South University
- Honghui Li
- Key Laboratory of Developmental Disorders in Children, Liuzhou Maternity and Child Healthcare Hospital
- Hui Guo
- Center for Medical Genetics & Hunan Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Central South University
- Jennifer Gerdts
- Department of Psychiatry and Behavioral Sciences, University of Washington
- Emanuela Avola
- Oasi Research Institute-IRCCS
- Giuseppe Calabrese
- Oasi Research Institute-IRCCS
- Maurizio Elia
- Oasi Research Institute-IRCCS
- Donatella Greco
- Oasi Research Institute-IRCCS
- Anna Lindstrand
- Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet
- Ann Nordgren
- Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet
- Britt-Marie Anderlid
- Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet
- Geert Vandeweyer
- Department of Medical Genetics, University of Antwerp
- Anke Van Dijck
- Department of Medical Genetics, University of Antwerp
- Nathalie Van der Aa
- Department of Medical Genetics, University of Antwerp
- Brooke McKenna
- Department of Psychology, Emory University
- Miroslava Hancarova
- Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol
- Sarka Bendova
- Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol
- Marketa Havlovicova
- Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol
- Giovanni Malerba
- Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona
- Bernardo Dalla Bernardina
- Child Neuropsychiatry Unit, AOUI
- Pierandrea Muglia
- UCB Pharma
- Arie van Haeringen
- Department of Clinical Genetics, Leiden University Medical Center (LUMC)
- Mariette J. V. Hoffer
- Department of Clinical Genetics, Leiden University Medical Center (LUMC)
- Barbara Franke
- Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center
- Gerarda Cappuccio
- Department of Translational Medicine, Federico II University
- Martin Delatycki
- Murdoch Children’s Research Institute
- Paul J. Lockhart
- Murdoch Children’s Research Institute
- Melanie A. Manning
- Division of Medical Genetics, Department of Pediatrics, Stanford University
- Pengfei Liu
- Department of Molecular & Human Genetics, Baylor College of Medicine
- Ingrid E. Scheffer
- Murdoch Children’s Research Institute
- Nicola Brunetti-Pierri
- Department of Translational Medicine, Federico II University
- Nanda Rommelse
- Department of Psychiatry, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center
- David G. Amaral
- Department of Psychiatry and Behavioral Sciences and the MIND Institute, University of California, Davis
- Gijs W. E. Santen
- Department of Clinical Genetics, Leiden University Medical Center (LUMC)
- Elisabetta Trabetti
- Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona
- Zdeněk Sedláček
- Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol
- Jacob J. Michaelson
- Department of Psychiatry, University of Iowa Carver College of Medicine
- Karen Pierce
- Department of Neurosciences, UC San Diego Autism Center, School of Medicine, University of California San Diego
- Eric Courchesne
- Department of Neurosciences, UC San Diego Autism Center, School of Medicine, University of California San Diego
- R. Frank Kooy
- Department of Medical Genetics, University of Antwerp
- The SPARK Consortium
- Simons Foundation
- Magnus Nordenskjöld
- Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet
- Corrado Romano
- Oasi Research Institute-IRCCS
- Hilde Peeters
- Centre for Human Genetics, KU Leuven and Leuven Autism Research (LAuRes)
- Raphael A. Bernier
- Department of Psychiatry and Behavioral Sciences, University of Washington
- Jozef Gecz
- South Australian Health and Medical Research Institute
- Kun Xia
- Center for Medical Genetics & Hunan Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Central South University
- Evan E. Eichler
- Department of Genome Sciences, University of Washington
- DOI
- https://doi.org/10.1038/s41467-020-18723-y
- Journal volume & issue
-
Vol. 11,
no. 1
pp. 1 – 13
Abstract
For many neurodevelopmental disorder (NDD) risk genes, the significance for mutational burden is unestablished. Here, the authors sequence 125 candidate NDD genes in over 16,000 NDD cases; case-control mutational burden analysis identifies 48 genes with a significant burden of severe ultra-rare mutations.
