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Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Author

Listed:
  • 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
    Genetics and Rare Diseases Research Division, 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
    South Australian Health and Medical Research Institute
    Genetics Unit, Universitat Pompeu Fabra, Hospital del Mar Research Institute (IMIM) and CIBERER)

  • Malin Kvarnung

    (Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet
    Karolinska University Hospital)

  • 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
    Baylor Genetics)

  • Madeleine R. Geisheker

    (University of Washington)

  • Lin Han

    (Central South University)

  • Bing Du

    (Central South University)

  • Chris Barnett

    (Women’s and Children’s Hospital
    the University of Adelaide)

  • 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
    University of New South Wales)

  • 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
    Karolinska University Hospital)

  • Ann Nordgren

    (Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet
    Karolinska University Hospital)

  • Britt-Marie Anderlid

    (Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet
    Karolinska University Hospital)

  • 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
    Radboud University Medical Center)

  • Gerarda Cappuccio

    (Federico II University
    Telethon Institute of Genetics and Medicine, Pozzuoli)

  • Martin Delatycki

    (Murdoch Children’s Research Institute)

  • Paul J. Lockhart

    (Murdoch Children’s Research Institute
    University of Melbourne)

  • Melanie A. Manning

    (Stanford University
    Stanford University)

  • Pengfei Liu

    (Department of Molecular & Human Genetics, Baylor College of Medicine
    Baylor Genetics)

  • Ingrid E. Scheffer

    (Murdoch Children’s Research Institute
    University of Melbourne, Royal Children’s Hospital
    University of Melbourne, Austin Health
    The Florey Institute of Neuroscience and Mental Health)

  • Nicola Brunetti-Pierri

    (Federico II University
    Telethon Institute of Genetics and Medicine, Pozzuoli)

  • Nanda Rommelse

    (Radboud University Medical Center
    Karakter Child and Adolescent Psychiatry 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
    Karolinska University Hospital)

  • 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
    the University of Adelaide
    Genetics and Molecular Pathology, SA Pathology)

  • Kun Xia

    (Central South University
    CAS Center for Excellence in Brain Science and Intelligences Technology (CEBSIT), Chinese Academy of Sciences)

  • Evan E. Eichler

    (University of Washington
    University of Washington)

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

Suggested Citation

  • 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., 2020. "Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders," Nature Communications, Nature, vol. 11(1), pages 1-13, December.
    • Handle: RePEc:nat:natcom:v:11:y:2020:i:1:d:10.1038_s41467-020-18723-y
    DOI: 10.1038/s41467-020-18723-y
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    Cited by:

    1. Jie Zhang & Gongcheng Hu & Yuli Lu & Huawei Ren & Yin Huang & Yulin Wen & Binrui Ji & Diyang Wang & Haidong Wang & Huisheng Liu & Ning Ma & Lingling Zhang & Guangjin Pan & Yibo Qu & Hua Wang & Wei Zha, 2024. "CTCF mutation at R567 causes developmental disorders via 3D genome rearrangement and abnormal neurodevelopment," Nature Communications, Nature, vol. 15(1), pages 1-21, December.
    2. Yudong Gao & Daichi Shonai & Matthew Trn & Jieqing Zhao & Erik J. Soderblom & S. Alexandra Garcia-Moreno & Charles A. Gersbach & William C. Wetsel & Geraldine Dawson & Dmitry Velmeshev & Yong-hui Jian, 2024. "Proximity analysis of native proteomes reveals phenotypic modifiers in a mouse model of autism and related neurodevelopmental conditions," Nature Communications, Nature, vol. 15(1), pages 1-18, December.
    3. Hyoseon Oh & Suho Lee & Yusang Oh & Seongbin Kim & Young Seo Kim & Yeji Yang & Woochul Choi & Ye-Eun Yoo & Heejin Cho & Seungjoon Lee & Esther Yang & Wuhyun Koh & Woojin Won & Ryunhee Kim & C. Justin , 2023. "Kv7/KCNQ potassium channels in cortical hyperexcitability and juvenile seizure-related death in Ank2-mutant mice," Nature Communications, Nature, vol. 14(1), pages 1-20, December.

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