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 Dijck, Nathalie Aa, Brooke McKenna, Miroslava Hancarova, Sarka Bendova, Marketa Havlovicova, Giovanni Malerba, Bernardo Dalla Bernardina, Pierandrea Muglia, Arie 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, Magnus Nordenskjöld, Corrado Romano, Hilde Peeters, Raphael A. Bernier, Jozef Gecz, Kun Xia and Evan E. Eichler ()
Additional contact information
Tianyun Wang: University of Washington
Kendra Hoekzema: University of Washington
Davide Vecchio: Rare Disease and Medical Genetics, Academic Department of Pediatrics, Bambino Gesù Children’s Hospital
Huidan Wu: Central South University
Arvis Sulovari: University of Washington
Bradley P. Coe: University of Washington
Madelyn A. Gillentine: University of Washington
Amy B. Wilfert: University of Washington
Luis A. Perez-Jurado: 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: University of Washington
Jill A. Rosenfeld: Department of Molecular & Human Genetics, Baylor College of Medicine
Madeleine R. Geisheker: University of Washington
Lin Han: Central South University
Bing Du: Central South University
Chris Barnett: Women’s and Children’s Hospital
Elizabeth Thompson: Women’s and Children’s Hospital
Marie Shaw: the University of Adelaide
Renee Carroll: the University of Adelaide
Kathryn Friend: Genetics and Molecular Pathology, SA Pathology
Rachael Catford: Genetics and Molecular Pathology, SA Pathology
Elizabeth E. Palmer: Hunter New England Health Service
Xiaobing Zou: Sun Yat-Sen University, Guangzhou
Jianjun Ou: Central South University
Honghui Li: Liuzhou Maternity and Child Healthcare Hospital
Hui Guo: Central South University
Jennifer Gerdts: 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: University of Antwerp
Anke Dijck: University of Antwerp
Nathalie Aa: University of Antwerp
Brooke McKenna: Emory University
Miroslava Hancarova: Charles University 2nd Faculty of Medicine and University Hospital Motol
Sarka Bendova: Charles University 2nd Faculty of Medicine and University Hospital Motol
Marketa Havlovicova: Charles University 2nd Faculty of Medicine and University Hospital Motol
Giovanni Malerba: University of Verona
Bernardo Dalla Bernardina: Child Neuropsychiatry Unit, AOUI
Pierandrea Muglia: UCB Pharma
Arie Haeringen: Leiden University Medical Center (LUMC)
Mariette J. V. Hoffer: Leiden University Medical Center (LUMC)
Barbara Franke: Radboud University Medical Center
Gerarda Cappuccio: Federico II University
Martin Delatycki: Murdoch Children’s Research Institute
Paul J. Lockhart: Murdoch Children’s Research Institute
Melanie A. Manning: Stanford University
Pengfei Liu: Department of Molecular & Human Genetics, Baylor College of Medicine
Ingrid E. Scheffer: Murdoch Children’s Research Institute
Nicola Brunetti-Pierri: Federico II University
Nanda Rommelse: Radboud University Medical Center
David G. Amaral: University of California, Davis
Gijs W. E. Santen: Leiden University Medical Center (LUMC)
Elisabetta Trabetti: University of Verona
Zdeněk Sedláček: Charles University 2nd Faculty of Medicine and University Hospital Motol
Jacob J. Michaelson: University of Iowa Carver College of Medicine
Karen Pierce: University of California San Diego
Eric Courchesne: University of California San Diego
R. Frank Kooy: University of Antwerp
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: University of Washington
Jozef Gecz: South Australian Health and Medical Research Institute
Kun Xia: Central South University
Evan E. Eichler: University of Washington

Nature Communications, 2020, vol. 11, issue 1, 1-13

Abstract: Abstract Most genes associated with neurodevelopmental disorders (NDDs) were identified with an excess of de novo mutations (DNMs) but the significance in case–control mutation burden analysis is unestablished. Here, we sequence 63 genes in 16,294 NDD cases and an additional 62 genes in 6,211 NDD cases. By combining these with published data, we assess a total of 125 genes in over 16,000 NDD cases and compare the mutation burden to nonpsychiatric controls from ExAC. We identify 48 genes (25 newly reported) showing significant burden of ultra-rare (MAF

Date: 2020
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DOI: 10.1038/s41467-020-18723-y

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