A framework for an evidence-based gene list relevant to autism spectrum disorder.,Nature Reviews Genetics

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A framework for an evidence-based gene list relevant to autism spectrum disorder.
Nature Reviews Genetics ( IF 42.7 ) Pub Date : 2020-04-21 , DOI: 10.1038/s41576-020-0231-2
Christian P Schaaf _{1,

2,

3} , Catalina Betancur ₄ , Ryan K C Yuen _{5,

6} , Jeremy R Parr ₇ , David H Skuse ₈ , Louise Gallagher ₉ , Raphael A Bernier _{10,

11} , Janet A Buchanan ₅ , Joseph D Buxbaum _{12,

13} , Chun-An Chen ₂ , Kira A Dies ₁₄ , Mayada Elsabbagh ₁₅ , Helen V Firth ₁₆ , Thomas Frazier ₁₇ , Ny Hoang ₅ , Jennifer Howe ₅ , Christian R Marshall ₅ , Jacques L Michaud ₁₈ , Olivia Rennie ₅ , Peter Szatmari _{19,

20} , Wendy K Chung ₂₁ , Patrick F Bolton ₂₂ , Edwin H Cook ₂₃ , Stephen W Scherer _{5,

6,

24} , Jacob A S Vorstman _{5,

19,

25}

Affiliation

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.
Neuroscience Paris Seine, Institut de Biologie Paris Seine, Sorbonne Université, INSERM, CNRS, Paris, France.
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.
Population Health Science Institute, Sir James Spence Institute, Newcastle University, Royal Victoria Infirmary, Newcastle, UK.
Institute of Child Health, University College London, London, UK.
Department of Psychiatry & Neuropsychiatric Genetics Research Group, School of Medicine, The Trinity Centre for Health Sciences, Trinity College Dublin, Dublin, Ireland.
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.
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.
Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Montreal Neurological Institute, Azrieli Centre for Autism Research, McGill University, Montreal, QC, Canada.
Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust & Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
Autism Speaks, Cleveland, OH, USA.
CHU Sainte-Justine Research Center, University of Montreal, Montreal, QC, Canada.
Department of Psychiatry, Hospital for Sick Children, Toronto, ON, Canada.
Centre for Addiction and Mental Health, University of Toronto, Toronto, ON, Canada.
Department of Pediatrics (in Medicine), Columbia University Medical Center, New York, NY, USA.
Institute of Psychiatry, King's College London, London, UK.
Department of Psychiatry, University of Illinois at Chicago, Chicago, IL, USA.
McLaughlin Centre, University of Toronto, Toronto, ON, Canada.
Department of Psychiatry, University of Toronto, Toronto, ON, Canada.

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.

中文翻译：

与自闭症谱系障碍相关的基于证据的基因列表框架。

自闭症谱系障碍 (ASD) 通常与其他与大脑相关的表型归为更广泛的神经发育障碍 (NDD) 类别。在临床实践中，提供者需要决定在患有 ASD 表型的个体中测试哪些基因，这需要了解支持与 ASD 相关的个体 NDD 基因的证据水平。目前对于哪些 NDD 基因有足够的证据支持与 ASD 的关系尚缺乏共识。不同研究小组和临床测序小组对与 ASD 相关的基因数量的估计差异很大，从几个到数百个不等。本路线图讨论了根据支持给定基因与 ASD 之间临床相关关系的信息水平为 NDD 基因管理提供循证框架所需的重要考虑因素。

更新日期：2020-04-24

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