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首页> 外文期刊>Molecular cytogenetics >Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies
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Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies

机译：在俄罗斯智障，自闭症，癫痫和先天性异常儿童队列中，通过阵列CGH进行分子核型分析

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Background Array comparative genomic hybridization (CGH) has been repeatedly shown to be a successful tool for the identification of genomic variations in a clinical population. During the last decade, the implementation of array CGH has resulted in the identification of new causative submicroscopic chromosome imbalances and copy number variations (CNVs) in neuropsychiatric (neurobehavioral) diseases. Currently, array-CGH-based technologies have become an integral part of molecular diagnosis and research in individuals with neuropsychiatric disorders and children with intellectual disability (mental retardation) and congenital anomalies. Here, we introduce the Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies analyzed by BAC array CGH and a novel bioinformatic strategy. Results Among 54 individuals highly selected according to clinical criteria and molecular and cytogenetic data (from 2426 patients evaluated cytogenetically and molecularly between November 2007 and May 2012), chromosomal imbalances were detected in 26 individuals (48%). In two patients (4%), a previously undescribed condition was observed. The latter has been designated as meiotic (constitutional) genomic instability resulted in multiple submicroscopic rearrangements (including CNVs). Using bioinformatic strategy, we were able to identify clinically relevant CNVs in 15 individuals (28%). Selected cases were confirmed by molecular cytogenetic and molecular genetic methods. Eight out of 26 chromosomal imbalances (31%) have not been previously reported. Among them, three cases were co-occurrence of subtle chromosome 9 and 21 deletions. Conclusions We conducted an array CGH study of Russian patients suffering from intellectual disability, autism, epilepsy and congenital anomalies. In total, phenotypic manifestations of clinically relevant genomic variations were found to result from genomic rearrangements affecting 1247 disease-causing and pathway-involved genes. Obviously, a significantly lesser part of them are true candidates for intellectual disability, autism or epilepsy. The success of our preliminary array CGH and bioinformatic study allows us to expand the cohort. According to the available literature, this is the first comprehensive array CGH evaluation of a Russian cohort of children with neuropsychiatric disorders and congenital anomalies.
机译：背景技术阵列比较基因组杂交（CGH）已被反复证明是鉴定临床人群中基因组变异的成功工具。在过去的十年中，阵列CGH的实施导致了神经精神病（神经行为）疾病中新的致病性亚显微染色体失衡和拷贝数变异（CNV）的鉴定。目前，基于阵列CGH的技术已成为神经精神疾病患者和智障（智力低下）和先天性异常儿童的分子诊断和研究的组成部分。在这里，我们介绍了由BAC阵列CGH和新颖的生物信息学策略分析的俄罗斯智障，自闭症，癫痫和先天性异常儿童群体。结果在根据临床标准以及分子和细胞遗传学数据（从2007年11月至2012年5月之间通过细胞遗传学和分子学方法评估的2426例患者）中高度筛选的54例个体中，检测到26例个体中的染色体失衡（48％）。在两名患者（4％）中，观察到先前未描述的疾病。后者被指定为导致减数分裂（包括CNV）的减数分裂（组成型）基因组不稳定。使用生物信息学策略，我们能够鉴定出15位个体（28％）的临床相关CNV。通过分子细胞遗传学和分子遗传学方法确认了选定的病例。以前没有报道过26种染色体失衡中的8种（31％）。其中3例是同时存在9号和21号染色体缺失。结论我们对患有智力障碍，自闭症，癫痫和先天性异常的俄罗斯患者进行了一系列CGH研究。总的来说，发现临床相关基因组变异的表型表现是由影响1247个致病基因和通路相关基因的基因组重排引起的。显然，其中很少一部分是智障，自闭症或癫痫病的真正候选人。我们初步的阵列CGH和生物信息学研究的成功使我们得以扩大研究范围。根据现有文献，这是对俄罗斯神经精神疾病和先天性异常儿童队列的首次全面阵列CGH评价。

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