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

被引：87

作者：

Schaaf, Christian P. ^{[1
,2
]}

Betancur, Catalina ^{[3
]}

Yuen, Ryan K. C. ^{[4
,5
]}

Parr, Jeremy R. ^{[6
]}

Skuse, David H. ^{[7
]}

Gallagher, Louise ^{[8
,9
]}

Bernier, Raphael A. ^{[10
,11
]}

Buchanan, Janet A. ^{[4
]}

Buxbaum, Joseph D. ^{[12
,13
]}

Chen, Chun-An ^{[1
]}

Dies, Kira A. ^{[14
]}

Elsabbagh, Mayada ^{[15
]}

Firth, Helen V. ^{[16
,17
]}

Frazier, Thomas ^{[18
]}

Hoang, Ny ^{[4
]}

Howe, Jennifer ^{[4
]}

Marshall, Christian R. ^{[4
]}

Michaud, Jacques L. ^{[19
]}

Rennie, Olivia ^{[4
]}

Szatmari, Peter ^{[20
,21
]}

Chung, Wendy K. ^{[22
]}

Bolton, Patrick F. ^{[23
]}

Cook, Edwin H. ^{[24
]}

Scherer, Stephen W. ^{[4
,5
,25
]}

Vorstman, Jacob A. S. ^{[4
,20
,26
]}

机构：

[1] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[2] Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA

[3] Sorbonne Univ, Inst Biol Paris seine, Neurosci Paris Seine, INSERM,CNRS, Paris, France

[4] Hosp Sick Children, Program Genet & Genome Biol, Ctr Appl Gen, toronto, ON, Canada

[5] Univ Toronto, Dept Mol Genet, Toronto, ON, Canada

[6] Newcastle Univ, Royal Victoria Infirm, Sir James Spence Inst, Populat Hlth Sci Inst, Newcastle, NSW, Australia

[7] UCL, Inst Child Hlth, London, England

[8] Trinity Coll Dublin, Trinity Ctr Hlth Sci, Sch Med, Dept Psychiat, Dublin, Ireland

[9] Trinity Coll Dublin, Trinity Ctr Hlth Sci, Sch Med, Neuropsychiat Genet Res Grp, Dublin, Ireland

[10] Univ Washington, Ctr Child Hlth Behav & Disabil, Dept Psychiat & Behav Sci, Seattle, WA 98195 USA

[11] Childrens Autism Ctr, Seattle, WA USA

[12] Icahn Sch Med Mt Sinai, Dept Psychiat, New York, NY 10029 USA

[13] Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA

[14] Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Translat Neurosci Ctr, Boston, MA 02115 USA

[15] McGill Univ, Azrieli Ctr Autism Res, Montreal Neurol Inst, Montreal, PQ, Canada

[16] Cambridge Univ Hosp NHs Fdn trust, Dept Clin Genet, Wellcome Genome Campus, Cambridge, England

[17] Wellcome Sanger Inst, Wellcome Genome Campus, Cambridge, England

[18] Autism Speaks, Cleveland, OH USA

[19] Univ Montreal, CHU St Justine Res Ctr, Montreal, PQ, Canada

[20] Hosp Sick Children, Dept Psychiat, Toronto, ON, Canada

[21] Univ Toronto, Ctr Addict & Mental Hlth, Toronto, ON, Canada

[22] Columbia Univ, Med Ctr, Dept Pediat Med, New York, NY USA

[23] Kings Coll London, Inst Psychiat, London, England

[24] Univ Illinois, Dept Psychiat, Chicago, IL 60612 USA

[25] Univ Toronto, McLaughlin Ctr, Toronto, ON, Canada

[26] Univ Toronto, Dept Psychiat, Toronto, ON, Canada

来源：

NATURE REVIEWS GENETICS | 2020年 / 21卷 / 06期

基金：

加拿大健康研究院;

关键词：

DISEASE ASSOCIATIONS; MENTAL-RETARDATION; CLINICAL VALIDITY; 22Q11.2; DELETION; CANDIDATE GENES; MUTATIONS; CHILDREN; RISK; CLINGEN; REVEAL;

D O I：

10.1038/s41576-020-0231-2

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. A curated list of genes that are relevant to autism spectrum disorder (ASD) would greatly benefit clinical genetic testing. This Roadmap discusses the need for an evidence-based framework for gene curation that is based on the level of information supporting a clinically relevant relationship between a given gene and ASD.

引用

页码：367 / 376

页数：10

共 50 条

[1] A framework for an evidence-based gene list relevant to autism spectrum disorder
Christian P. Schaaf
Catalina Betancur
Ryan K. C. Yuen
Jeremy R. Parr
David H. Skuse
Louise Gallagher
Raphael A. Bernier
Janet A. Buchanan
Joseph D. Buxbaum
Chun-An Chen
Kira A. Dies
Mayada Elsabbagh
Helen V. Firth
Thomas Frazier
Ny Hoang
Jennifer Howe
Christian R. Marshall
Jacques L. Michaud
Olivia Rennie
Peter Szatmari
Wendy K. Chung
Patrick F. Bolton
Edwin H. Cook
Stephen W. Scherer
Jacob A. S. Vorstman
Nature Reviews Genetics, 2020, 21 : 367 - 376
[2] A framework for an evidence-based gene list relevant to autism spectrum disorder
Vorstman, Jacob
EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 85 - 86
[3] Evidence-Based Treatments for Autism Spectrum Disorder
Politte L.C.
Howe Y.
Nowinski L.
Palumbo M.
McDougle C.J.
Current Treatment Options in Psychiatry, 2015, 2 (1) : 38 - 56
[4] High-Functioning Autism Spectrum Disorder: A Framework for Evidence-Based Practice
Thomeer, Marcus L.
McDonald, Christin A.
Rodgers, Jonathan D.
Lopata, Christopher
SCHOOL MENTAL HEALTH, 2019, 11 (01) : 29 - 39
[5] High-Functioning Autism Spectrum Disorder: A Framework for Evidence-Based Practice
Marcus L. Thomeer
Christin A. McDonald
Jonathan D. Rodgers
Christopher Lopata
School Mental Health, 2019, 11 : 29 - 39
[6] Autism spectrum disorder: advances in evidence-based practice
Anagnostou, Evdokia
Zwaigenbaum, Lonnie
Szatmari, Peter
Fombonne, Eric
Fernandez, Bridget A.
Woodbury-Smith, Marc
Brian, Jessica
Bryson, Susan
Smith, Isabel M.
Drmic, Irene
Buchanan, Janet A.
Roberts, Wendy
Scherer, Stephen W.
CANADIAN MEDICAL ASSOCIATION JOURNAL, 2014, 186 (07) : 509 - 519
[7] Autism Spectrum Disorder and Evidence-Based Practice in Psychology
McGrew, John H.
Ruble, Lisa A.
Smith, Isabel M.
CLINICAL PSYCHOLOGY-SCIENCE AND PRACTICE, 2016, 23 (03) : 239 - 255
[8] Autism Spectrum Disorder: Advances in Psychotherapy Evidence-Based Practice
Koth, Kathleen A.
JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY, 2016, 55 (05): : 424 - 425
[9] An Evidence-Based Approach to Assessment of Autism Spectrum Disorder in Adults
Mapou, Robert L.
Schoenfield, Gretchen
CLINICAL NEUROPSYCHOLOGIST, 2022, 36 (04) : 741 - 741
[10] Evidence-Based Social Communication Interventions for Children with Autism Spectrum Disorder
Laci Watkins
Michelle Kuhn
Katherine Ledbetter-Cho
Cindy Gevarter
Mark O’Reilly
The Indian Journal of Pediatrics, 2017, 84 : 68 - 75

← 1 2 3 4 5 →