The genetic variability and commonality of neurodevelopmental disease

被引：88

作者：

Coe, Bradley P. ^{[2
]}

Girirajan, Santhosh ^{[2
]}

Eichler, Evan E. ^{[1
]}

机构：

[1] Univ Washington, Sch Med, Dept Genome Sci, Howard Hughes Med Inst, Seattle, WA 98195 USA

[2] Univ Washington, Sch Med, Dept Genome Sci, Evan Eichlers Grp, Seattle, WA USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS | 2012年 / 160C卷 / 02期

基金：

加拿大健康研究院;

关键词：

copy number variants; variable penetrance; genomic disorders; autism; schizophrenia; intellectual disability; AUTISM SPECTRUM DISORDERS; COPY-NUMBER VARIATION; IDIOPATHIC GENERALIZED EPILEPSY; 3Q29 MICRODELETION SYNDROME; RARE CHROMOSOMAL DELETIONS; GENOME-WIDE ASSOCIATION; DE-NOVO CNVS; STRUCTURAL VARIATION; BIPOLAR-DISORDER; RECURRENT MICRODELETIONS;

D O I：

10.1002/ajmg.c.31327

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Despite detailed clinical definition and refinement of neurodevelopmental disorders and neuropsychiatric conditions, the underlying genetic etiology has proved elusive. Recent genetic studies have revealed some common themes: considerable locus heterogeneity, variable expressivity for the same mutation, and a role for multiple disruptive events in the same individual affecting genes in common pathways. Recurrent copy number variation (CNV), in particular, has emphasized the importance of either de novo or essentially private mutations creating imbalances for multiple genes. CNVs have foreshadowed a model where the distinction between milder neuropsychiatric conditions from those of severe developmental impairment may be a consequence of increased mutational burden affecting more genes. (c) 2012 Wiley Periodicals, Inc.

引用

页码：118 / 129

页数：12

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