Disruptive variants of

Adolescent Animals Autistic Disorder / diagnosis Child Child, Preschool DNA-Binding Proteins / genetics Disease Models, Animal Female Genetic Association Studies Genetic Loci Genetic Predisposition to Disease Genetic Variation Humans Male Mice Neurogenesis / genetics Neurons / metabolism Pedigree Phenotype RNA-Binding Proteins / genetics Synapses / genetics Synaptic Transmission / genetics Young Adult

Journal

Science advances
ISSN: 2375-2548
Titre abrégé: Sci Adv
Pays: United States
ID NLM: 101653440

Informations de publication

Date de publication:
09 2019
Historique:
received: 08 03 2019
accepted: 27 08 2019
entrez: 4 10 2019
pubmed: 4 10 2019
medline: 19 5 2020
Statut: epublish

Résumé

RNA binding proteins are key players in posttranscriptional regulation and have been implicated in neurodevelopmental and neuropsychiatric disorders. Here, we report a significant burden of heterozygous, likely gene-disrupting variants in

Identifiants

DOI: 10.1126/sciadv.aax2166 PMID: 31579823 PMC: PMC6760934
pubmed: 31579823
doi: 10.1126/sciadv.aax2166
pii: aax2166
pmc: PMC6760934
doi:

Substances chimiques

CSDE1 protein, human 0
DNA-Binding Proteins 0
RNA-Binding Proteins 0

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

eaax2166

Subventions

Organisme : NIMH NIH HHS
ID : R01 MH101221
Pays : United States
Organisme : NICHD NIH HHS
ID : U54 HD079123
Pays : United States

Informations de copyright

Copyright © 2019 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works. Distributed under a Creative Commons Attribution License 4.0 (CC BY).

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Auteurs

Hui Guo (H)

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
ORCID: 0000-0002-1570-2545

Ying Li (Y)

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
ORCID: 0000-0002-2015-3560

Lu Shen (L)

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
ORCID: 0000-0002-7692-0247

Tianyun Wang (T)

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
ORCID: 0000-0002-5179-087X

Xiangbin Jia (X)

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

Lijuan Liu (L)

Institute of Life Sciences, Key Laboratory of Developmental Genes and Human Disease, Southeast University, Nanjing, Jiangsu, China.

Tao Xu (T)

Department of Neurobiology, Beijing Key Laboratory of Neural Regeneration and Repair, Beijing Laboratory of Brain Disorders (Ministry of Science and Technology), Beijing Institute of Brain Disorders, Capital Medical University, Beijing, China.

Mengzhu Ou (M)

Institute of Life Sciences, Key Laboratory of Developmental Genes and Human Disease, Southeast University, Nanjing, Jiangsu, China.

Kendra Hoekzema (K)

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.

Huidan Wu (H)

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

Madelyn A Gillentine (MA)

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.

Cenying Liu (C)

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

Hailun Ni (H)

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

Pengwei Peng (P)

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

Rongjuan Zhao (R)

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

Yu Zhang (Y)

Key Laboratory of Developmental Disorders in Children, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou, Guangxi, China.
ORCID: 0000-0001-6113-8706

Chanika Phornphutkul (C)

Division of Human Genetics, Warren Alpert Medical School of Brown University, Hasbro Children's Hospital/Rhode Island Hospital, Providence, RI, USA.

Alexander P A Stegmann (APA)

Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.

Carlos E Prada (CE)

Department of Pediatrics, University of Cincinnati College of Medicine, Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, OH, USA.
ORCID: 0000-0003-3348-3531

Robert J Hopkin (RJ)

Department of Pediatrics, University of Cincinnati College of Medicine, Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, OH, USA.
ORCID: 0000-0003-0770-5516

Joseph T Shieh (JT)

Institute for Human Genetics and Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.

Kirsty McWalter (K)

GeneDx, Gaithersburg, MD, USA.
ORCID: 0000-0002-1654-9036

Kristin G Monaghan (KG)

GeneDx, Gaithersburg, MD, USA.

Peter M van Hasselt (PM)

University Medical Center Utrecht, Utrecht, Netherlands.

Koen van Gassen (K)

University Medical Center Utrecht, Utrecht, Netherlands.

Ting Bai (T)

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

Min Long (M)

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

Lin Han (L)

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

Yingting Quan (Y)

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

Meilin Chen (M)

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

Yaowen Zhang (Y)

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

Kuokuo Li (K)

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

Qiumeng Zhang (Q)

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

Jieqiong Tan (J)

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

Tengfei Zhu (T)

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

Yaning Liu (Y)

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

Nan Pang (N)

Department of Pediatrics, Xiangya Hospital, Central South University, Changsha, China.
ORCID: 0000-0002-9557-9451

Jing Peng (J)

Department of Pediatrics, Xiangya Hospital, Central South University, Changsha, China.

Daryl A Scott (DA)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, USA.
ORCID: 0000-0003-1460-5169

Seema R Lalani (SR)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Mahshid Azamian (M)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
ORCID: 0000-0002-8543-8284

Grazia M S Mancini (GMS)

Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands.

Darius J Adams (DJ)

Goryeb Children's Hospital, Atlantic Health System, Morristown, NJ, USA.
ORCID: 0000-0002-8723-260X

Malin Kvarnung (M)

Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden.
Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.

Anna Lindstrand (A)

Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden.
Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
ORCID: 0000-0003-0806-5602

Ann Nordgren (A)

Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden.
Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
ORCID: 0000-0003-3285-4281

Jonathan Pevsner (J)

Department of Neurology, Kennedy Krieger Institute, Baltimore, MD, USA.
Program in Human Genetics, Johns Hopkins School of Medicine, Baltimore, MD, USA.
ORCID: 0000-0002-6328-0842

Ikeoluwa A Osei-Owusu (IA)

Department of Neurology, Kennedy Krieger Institute, Baltimore, MD, USA.
Program in Human Genetics, Johns Hopkins School of Medicine, Baltimore, MD, USA.

Corrado Romano (C)

Oasi Research Institute-IRCCS, Troina, Italy.
ORCID: 0000-0003-1049-0683

Giuseppe Calabrese (G)

Oasi Research Institute-IRCCS, Troina, Italy.
ORCID: 0000-0002-8846-4955

Ornella Galesi (O)

Oasi Research Institute-IRCCS, Troina, Italy.
ORCID: 0000-0002-7877-938X

Jozef Gecz (J)

School of Medicine and the Robinson Research Institute, University of Adelaide at the Women's and Children's Hospital, Adelaide, South Australia, Australia.
ORCID: 0000-0002-7884-6861

Eric Haan (E)

Adult Genetics Unit, Royal Adelaide Hospital, and School of Medicine, University of Adelaide, Adelaide, South Australia, Australia.
ORCID: 0000-0002-7310-5124

Judith Ranells (J)

Department of Pediatrics, University of South Florida, Tampa, FL, USA.
ORCID: 0000-0002-3682-1623

Melissa Racobaldo (M)

Department of Pediatrics, University of South Florida, Tampa, FL, USA.

Magnus Nordenskjold (M)

Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden.
Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.

Suneeta Madan-Khetarpal (S)

Division of Medical Genetics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA.

Jessica Sebastian (J)

Division of Medical Genetics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA.

Susie Ball (S)

Central Washington Genetics Program, Virginia Mason Memorial, Yakima, WA, USA.

Xiaobing Zou (X)

Children Development Behavior Center of the Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong, China.

Jingping Zhao (J)

Mental Health Institute of the Second Xiangya Hospital, Central South University, Changsha, Hunan, China.

Zhengmao Hu (Z)

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

Fan Xia (F)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Baylor Genetics, Houston, TX, USA.

Pengfei Liu (P)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Baylor Genetics, Houston, TX, USA.
ORCID: 0000-0002-4177-709X

Jill A Rosenfeld (JA)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
ORCID: 0000-0001-5664-7987

Bert B A de Vries (BBA)

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.

Raphael A Bernier (RA)

Department of Psychiatry, University of Washington, Seattle, WA, USA.

Zhi-Qing David Xu (ZD)

Department of Neurobiology, Beijing Key Laboratory of Neural Regeneration and Repair, Beijing Laboratory of Brain Disorders (Ministry of Science and Technology), Beijing Institute of Brain Disorders, Capital Medical University, Beijing, China.

Honghui Li (H)

Key Laboratory of Developmental Disorders in Children, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou, Guangxi, China.

Wei Xie (W)

Institute of Life Sciences, Key Laboratory of Developmental Genes and Human Disease, Southeast University, Nanjing, Jiangsu, China.

Robert B Hufnagel (RB)

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, NIH, Bethesda, MD, USA.
ORCID: 0000-0003-3015-3545

Evan E Eichler (EE)

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA.
ORCID: 0000-0002-8246-4014

Kun Xia (K)

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Key Laboratory of Medical Information Research, Central South University, Changsha, Hunan, China.
CAS Center for Excellence in Brain Science and Intelligences Technology (CEBSIT), Chinese Academy of Sciences, Shanghai 200030, China.
Hunan Key Laboratory of Animal Models for Human Diseases, Central South University, Changsha, Hunan 410078, China.
ORCID: 0000-0001-8090-6002

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adolescent › Disruptive variants of
questionsmedicales.fr › Eucaryotes › Animaux › Disruptive variants of
questionsmedicales.fr › Troubles mentaux › Troubles du développement neurologique › Troubles généralisés du développement de l'enfant › Trouble du spectre autistique › Trouble autistique › Disruptive variants of
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Disruptive variants of
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Enfant d'âge préscolaire › Disruptive variants of
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines de liaison à l'ADN › Disruptive variants of
questionsmedicales.fr › Techniques d'investigation › Modèles théoriques › Modèles biologiques › Modèles animaux de maladie humaine › Disruptive variants of
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Études d'associations génétiques › Disruptive variants of
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Locus génétiques › Disruptive variants of
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › Disruptive variants of
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Disruptive variants of
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Disruptive variants of
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Disruptive variants of
questionsmedicales.fr › Phénomènes physiologiques de l'appareil locomoteur et du système nerveux › Phénomènes physiologiques du système nerveux › Neurogenèse › Disruptive variants of
questionsmedicales.fr › Cellules › Neurones › Disruptive variants of
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Pedigree › Disruptive variants of
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Disruptive variants of
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Nucléoprotéines › Protéines de liaison à l'ARN › Disruptive variants of
questionsmedicales.fr › Cellules › Structures cellulaires › Membrane cellulaire › Structures de la membrane cellulaire › Jonctions intercellulaires › Synapses › Disruptive variants of
questionsmedicales.fr › Phénomènes physiologiques de l'appareil locomoteur et du système nerveux › Phénomènes physiologiques du système nerveux › Transmission synaptique › Disruptive variants of
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Jeune adulte › Disruptive variants of