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

被引：88

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

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