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首页> 外文期刊>American journal of medical genetics, Part B. Neuropsychiatric genetics: the official publication of the International Society of Psychiatric Genetics >Recurrent 15q11.2 BP1-BP2 Microdeletions and Microduplications in the Etiology of Neurodevelopmental Disorders
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Recurrent 15q11.2 BP1-BP2 Microdeletions and Microduplications in the Etiology of Neurodevelopmental Disorders

机译：循环15Q11.2 BP1-BP2微术和微扫描在神经发育障碍的病因中

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摘要

Rare and common CNVs can contribute to the etiology of neurodevelopmental disorders. One of the recurrent genomic aberrations associated with these phenotypes and proposed as a susceptibility locus is the 15q11.2 BP1-BP2 CNV encompassing TUBGCP5, CYFIP1, NIPA2, and NIPA1. Characterizing by array-CGH a cohort of 243 families with various neurodevelopmental disorders, we identified five patients carrying the 15q11.2 duplication and one carrying the deletion. All CNVs were confirmed by qPCR and were inherited, except for one duplication where parents were not available. The phenotypic spectrum of CNV carriers was broad but mainly neurodevelopmental, in line with all four genes being implicated in axonal growth and neural connectivity. Phenotypically normal and mildly affected carriers complicate the interpretation of this aberration. This variability may be due to reduced penetrance or altered gene dosage on a particular genetic background. We evaluated the expression levels of the four genes in peripheral blood RNA and found the expected reduction in the deleted case, while duplicated carriers displayed high interindividual variability. These data suggest that differential expression of these genes could partially account for differences in clinical phenotypes, especially among duplication carriers. Furthermore, urinary Mg2+ levels appear negatively correlated with NIPA2 gene copy number, suggesting they could potentially represent a useful biomarker, whose reliability will need replication in larger samples. (C) 2016 Wiley Periodicals, Inc.
机译：罕见和常见的CNV可以有助于神经发育障碍的病因。与这些表型相关的复发基因组畸变之一，并提出为易感性基因座是15Q11.2 BP1-BP2 CNV包围毒管，CYFIP1，NIPA2和NIPA1。通过阵列-CGH队列的组织队列243个家庭具有各种神经发育障碍，我们确定了五个患者，携带15季度重复和携带缺失的患者。所有CNV都被QPCR确认，继承，除了父母不可用的重复。 CNV载体的表型谱宽，但主要是神经发育的，符合所有四种基因，涉及轴突生长和神经连接。表型正常和温和的受影响的携带者使对这种像差的解释复杂化。这种可变性可能是由于特定遗传背景上的渗透或改变的基因剂量减少。我们评估了外周血RNA中四种基因的表达水平，并发现删除案例的预期减少，而重复的载波显示出高的接口变异性。这些数据表明，这些基因的差异表达可以部分地考虑临床表型的差异，特别是在重复载体中。此外，尿mg2 +水平与NIPA2基因拷贝数呈负相关，表明它们可能代表一种有用的生物标志物，其可靠性将需要在较大的样品中复制。 （c）2016 Wiley期刊，Inc。

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