Dissecting Molecular Genetic Mechanisms of 1q21.1 CNV in Neuropsychiatric Disorders.
Dissecting Molecular Genetic Mechanisms of 1q21.1 CNV in Neuropsychiatric Disorders.
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在神经精神疾病中解剖1q21.1 CNV的分子遗传机制。
DOI：
10.3390/ijms22115811
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发表时间：
2021-05-28
影响因子：
5.6
通讯作者：
Mao Y
中科院分区：
文献类型：
--
作者：
Yoon J;Mao Y
致病性拷贝数变异（CNVs）有助于神经发育/神经精神疾病（NDs）的病因学。临床研究发现，与对照组相比，CNV负担的增加与NDs有重要关系。在许多NDs患者中检测到罕见且大的染色体微重复和微缺失的1q21.1 CNVs。重复和缺失的表型出现在谱的两端。微缺失在精神分裂症（SCZ）和小头畸形患者中占主导地位，而微重复在自闭症谱系障碍（ASD）和大头畸形患者中占主导地位。然而，其复杂性阻碍了分子途径和表型网络的发现。在这篇综述中，我们总结了最近的全基因组关联研究（GWASs），这些研究已经确定了与1q21.1 CNVs正相关的候选基因，这些基因可能导致携带者的异常表型。我们讨论了与认知障碍和突触可塑性降低等神经发育功能障碍密切相关的1q21.1遗传结构的临床数据。我们进一步提出了表型严重程度、基因组外显率和遗传方面的变异报告。
Pathogenic copy number variations (CNVs) contribute to the etiology of neurodevelopmental/neuropsychiatric disorders (NDs). Increased CNV burden has been found to be critically involved in NDs compared with controls in clinical studies. The 1q21.1 CNVs, rare and large chromosomal microduplications and microdeletions, are detected in many patients with NDs. Phenotypes of duplication and deletion appear at the two ends of the spectrum. Microdeletions are predominant in individuals with schizophrenia (SCZ) and microcephaly, whereas microduplications are predominant in individuals with autism spectrum disorder (ASD) and macrocephaly. However, its complexity hinders the discovery of molecular pathways and phenotypic networks. In this review, we summarize the recent genome-wide association studies (GWASs) that have identified candidate genes positively correlated with 1q21.1 CNVs, which are likely to contribute to abnormal phenotypes in carriers. We discuss the clinical data implicated in the 1q21.1 genetic structure that is strongly associated with neurodevelopmental dysfunctions like cognitive impairment and reduced synaptic plasticity. We further present variations reported in the phenotypic severity, genomic penetrance and inheritance.
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