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首页> 外文期刊>BMC Genomics >Copy number variations in Saudi family with intellectual disability and epilepsy
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Copy number variations in Saudi family with intellectual disability and epilepsy

机译：具有智力障碍和癫痫病的沙特家庭的拷贝数变异

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Background Epilepsy is genetically complex but common brain disorder of the world affecting millions of people with almost of all age groups. Novel Copy number variations (CNVs) are considered as important reason for the numerous neurodevelopmental disorders along with intellectual disability and epilepsy. DNA array based studies contribute to explain a more severe clinical presentation of the disease but interoperation of many detected CNVs are still challenging. Results In order to study novel CNVs with epilepsy related genes in Saudi family with six affected and two normal individuals with several forms of epileptic seizures, intellectual disability (ID), and minor dysmorphism, we performed the high density whole genome Agilent sure print G3 Hmn CGH 2x 400?K array-CGH chips analysis. Our results showed de novo deletions, duplications and deletion plus duplication on differential chromosomal regions in the affected individuals that were not shown in the normal fathe and normal kids by using Agilent CytoGenomics 3.0.6.6 softwear. Copy number gain were observed in the chromosome 1, 16 and 22 with LCE3C , HPR , GSTT2 , GSTTP2 , DDT and DDTL genes respectively whereas the deletions observed in the chromosomal regions 8p23-p21 (4303127–4337759) and the potential gene in this region is CSMD1 (OMIM: 612279). Moreover, the array CGH results deletions and duplication were also validated by using primer design of deleted regions utilizing the flanked SNPs using simple PCR and also by using quantitative real time PCR. Conclusions We found some of the de novo deletions and duplication in our study in Saudi family with intellectual disability and epilepsy. Our results suggest that array-CGH should be used as a first line of genetic test for epilepsy except there is a strong indication for a monogenic syndrome. The advanced high through put array-CGH technique used in this study aim to collect the data base and to identify new mechanisms describing epileptic disorder, may help to improve the clinical management of individual cases in decreasing the burden of epilepsy in Saudi Arabia.
机译：背景技术癫痫病是遗传上复杂的，但是世界上常见的脑部疾病，几乎影响了所有年龄段的数百万人。新型拷贝数变异（CNV）被认为是导致众多神经发育障碍以及智力残疾和癫痫病的重要原因。基于DNA阵列的研究有助于解释该病的更严重的临床表现，但许多检测到的CNV的互操作性仍然具有挑战性。结果为了研究沙特家族中具有癫痫相关基因的新型CNV，该家族有6名受影响的人和2名正常人，患有几种形式的癫痫发作，智力障碍（ID）和轻微畸形，我们进行了高密度全基因组安捷伦肯定打印G3 Hmn CGH 2x 400？K阵列-CGH芯片分析。我们的研究结果表明，使用安捷伦CytoGenomics 3.0.6.6软装，受影响个体中的差异染色体区域从头进行了删除，重复和缺失加重复，而正常人和正常孩子中未发现这些差异。在分别具有LCE3C，HPR，GSTT2，GSTTP2，DDT和DDTL基因的1号，16号和22号染色体上观察到拷贝数增加，而在染色体区域8p23-p21（4303127–4337759）和该区域中的潜在基因中观察到了缺失是CSMD1（OMIM：612279）。此外，阵列CGH结果的缺失和重复也通过使用侧翼SNP的缺失区域的引物设计，通过简单PCR以及还通过定量实时PCR来验证。结论我们在研究中发现了一些从头删除和重复的沙特家族智障和癫痫患者。我们的结果表明，阵列-CGH应当用作癫痫的基因测试的第一线，除非有强烈的迹象表明存在单基因综合征。本研究中使用的先进的高通量阵列CGH技术旨在收集数据库并确定描述癫痫病的新机制，可能有助于改善个别病例的临床管理，从而减轻沙特阿拉伯的癫痫负担。

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