A framework for an evidence-based gene list relevant to autism spectrum disorder.

Autism Spectrum Disorder / genetics Brain / growth & development Cognition / physiology Evidence-Based Medicine / methods Genetic Association Studies / methods Humans Intellectual Disability / genetics

Journal

Nature reviews. Genetics
ISSN: 1471-0064
Titre abrégé: Nat Rev Genet
Pays: England
ID NLM: 100962779

Informations de publication

Date de publication:
06 2020
Historique:
accepted: 17 03 2020
pubmed: 23 4 2020
medline: 23 7 2020
entrez: 23 4 2020
Statut: ppublish

Résumé

Autism spectrum disorder (ASD) is often grouped with other brain-related phenotypes into a broader category of neurodevelopmental disorders (NDDs). In clinical practice, providers need to decide which genes to test in individuals with ASD phenotypes, which requires an understanding of the level of evidence for individual NDD genes that supports an association with ASD. Consensus is currently lacking about which NDD genes have sufficient evidence to support a relationship to ASD. Estimates of the number of genes relevant to ASD differ greatly among research groups and clinical sequencing panels, varying from a few to several hundred. This Roadmap discusses important considerations necessary to provide an evidence-based framework for the curation of NDD genes based on the level of information supporting a clinically relevant relationship between a given gene and ASD.

Identifiants

DOI: 10.1038/s41576-020-0231-2 PMID: 32317787 PMC: PMC10357004
pubmed: 32317787
doi: 10.1038/s41576-020-0231-2
pii: 10.1038/s41576-020-0231-2
pmc: PMC10357004
mid: NIHMS1914251
doi:

Types de publication

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

Langues

eng

Sous-ensembles de citation

IM

Pagination

367-376

Subventions

Organisme : NIMH NIH HHS
ID : R01 MH110920
Pays : United States
Organisme : NIMH NIH HHS
ID : U01 MH119741
Pays : United States

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Auteurs

Christian P Schaaf (CP)

Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.
ORCID: 0000-0002-2148-7490

Catalina Betancur (C)

Neuroscience Paris Seine, Institut de Biologie Paris Seine, Sorbonne Université, INSERM, CNRS, Paris, France.
ORCID: 0000-0002-3327-4804

Ryan K C Yuen (RKC)

The Centre for Applied Genomics, Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
ORCID: 0000-0001-7273-4968

Jeremy R Parr (JR)

Population Health Science Institute, Sir James Spence Institute, Newcastle University, Royal Victoria Infirmary, Newcastle, UK.

David H Skuse (DH)

Institute of Child Health, University College London, London, UK.
ORCID: 0000-0002-7891-5732

Louise Gallagher (L)

Department of Psychiatry & Neuropsychiatric Genetics Research Group, School of Medicine, The Trinity Centre for Health Sciences, Trinity College Dublin, Dublin, Ireland.
ORCID: 0000-0001-9462-2836

Raphael A Bernier (RA)

Department of Psychiatry and Behavioral Sciences, University of Washington, Center for Child Health, Behavior, and Disabilities, Seattle, WA, USA.
Children's Autism Center, Seattle, WA, USA.

Janet A Buchanan (JA)

The Centre for Applied Genomics, Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.

Joseph D Buxbaum (JD)

Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Chun-An Chen (CA)

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

Kira A Dies (KA)

Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

Mayada Elsabbagh (M)

Montreal Neurological Institute, Azrieli Centre for Autism Research, McGill University, Montreal, QC, Canada.

Helen V Firth (HV)

Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust & Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.

Thomas Frazier (T)

Autism Speaks, Cleveland, OH, USA.

Ny Hoang (N)

The Centre for Applied Genomics, Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.

Jennifer Howe (J)

The Centre for Applied Genomics, Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.

Christian R Marshall (CR)

The Centre for Applied Genomics, Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.

Jacques L Michaud (JL)

CHU Sainte-Justine Research Center, University of Montreal, Montreal, QC, Canada.

Olivia Rennie (O)

The Centre for Applied Genomics, Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
ORCID: 0000-0002-9441-978X

Peter Szatmari (P)

Department of Psychiatry, Hospital for Sick Children, Toronto, ON, Canada.
Centre for Addiction and Mental Health, University of Toronto, Toronto, ON, Canada.

Wendy K Chung (WK)

Department of Pediatrics (in Medicine), Columbia University Medical Center, New York, NY, USA.

Patrick F Bolton (PF)

Institute of Psychiatry, King's College London, London, UK.

Edwin H Cook (EH)

Department of Psychiatry, University of Illinois at Chicago, Chicago, IL, USA.

Stephen W Scherer (SW)

The Centre for Applied Genomics, Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada. stephen.scherer@sickkids.ca.
Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada. stephen.scherer@sickkids.ca.
McLaughlin Centre, University of Toronto, Toronto, ON, Canada. stephen.scherer@sickkids.ca.
ORCID: 0000-0002-8326-1999

Jacob A S Vorstman (JAS)

The Centre for Applied Genomics, Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada. jacob.vorstman@sickkids.ca.
Department of Psychiatry, Hospital for Sick Children, Toronto, ON, Canada. jacob.vorstman@sickkids.ca.
Department of Psychiatry, University of Toronto, Toronto, ON, Canada. jacob.vorstman@sickkids.ca.
ORCID: 0000-0002-1677-3126

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Classifications MeSH

questionsmedicales.fr › Troubles mentaux › Troubles du développement neurologique › Troubles généralisés du développement de l'enfant › Trouble du spectre autistique › A framework for an evidence-based gene list...
questionsmedicales.fr › Système nerveux › Système nerveux central › Encéphale › A framework for an evidence-based gene list...
questionsmedicales.fr › Phénomènes psychologiques › Processus mentaux › Cognition › A framework for an evidence-based gene list...
questionsmedicales.fr › Professions de santé › Médecine › Médecine clinique › Médecine factuelle › A framework for an evidence-based gene list...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Études d'associations génétiques › A framework for an evidence-based gene list...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › A framework for an evidence-based gene list...
questionsmedicales.fr › Troubles mentaux › Troubles du développement neurologique › Déficience intellectuelle › A framework for an evidence-based gene list...