What a finding of gene copy number variation can add to the diagnosis of developmental neuropsychiatric disorders

被引：13

作者：

Vorstman, Jacob ^{[1
,2
,3
]}

Scherer, Stephen W. ^{[2
,3
,4
,5
]}

机构：

[1] Univ Toronto, Dept Psychiat, Hosp Sick Children, Toronto, ON, Canada

[2] Hosp Sick Children, Program Genet & Genome Biol, Toronto, ON, Canada

[3] Hosp Sick Children, Ctr Appl Genom, Toronto, ON, Canada

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

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

来源：

CURRENT OPINION IN GENETICS & DEVELOPMENT | 2021年 / 68卷

关键词：

AUTISM SPECTRUM DISORDERS; INDIVIDUALS; MICROARRAY; MUTATIONS; VARIANTS; CLINGEN; IMPACT; BRAIN; EXONS; RISK;

D O I：

10.1016/j.gde.2020.12.017

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Among medical disciplines, diagnosis in psychiatry depends highly upon descriptive signs and symptoms, rather than biomarkers. Clear descriptions ofspecificgenetic etiologies have been lacking; genomic technologies, however, are rapidly changing that landscape. Notably, chromosomal microarrays-which detect gene copy number variants (CNVs)-are a recommended standard of care for neurodevelopmental disorders. As a result, an increasing number of patients now receive a clinical diagnosis based on the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) and an identified genetic etiological variant. However, psychiatric and genetic diagnoses are frequently communicated and managed as two disconnected diagnostic parameters. Here, we advocate for a transition model, allowing the integration of genetic etiological information-starting with diagnostically proven CNVs-within the DSM-5 classification framework.

引用

页码：18 / 25

页数：8

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