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首页> 外文期刊>Balkan journal of medical genetics: BJMG >BENIGN, PATHOGENIC AND COPY NUMBER VARIATIONS OF UNKNOWN CLINICAL SIGNIFICANCE IN PATIENTS WITH CONGENITAL MALFORMATIONS AND DEVELOPMENTAL DELAY
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BENIGN, PATHOGENIC AND COPY NUMBER VARIATIONS OF UNKNOWN CLINICAL SIGNIFICANCE IN PATIENTS WITH CONGENITAL MALFORMATIONS AND DEVELOPMENTAL DELAY

机译：先天性畸形和发育延迟患者未知临床意义的良性，致病和拷贝数变异

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摘要

The high frequency (3.0-5.0%) of congenital anomalies (CA) and intellectual disabilities (IDs), make them a serious problem, responsible for a high percentage (33.0%) of neonatal mortality. The genetic cause remains unclear in 40.0% of cases. Recently, molecular karyotyping has become the most powerful method for detection of pathogenic imbalances in patients with multiple CAs and IDs. This method is with high resolution and gives us the opportunity to investigate and identify candidate genes that could explain the genotype-phenotype correlations. This article describes the results from analysis of 81 patients with congenital malformations (CMs), developmental delay (DD) and ID, in which we utilized the CytoChip ISCA oligo microarray, 4 x 44 k, covering the whole genome with a resolution of 70 kb. In the selected group of patients with CAs, 280 copy number variations (CNVs) have been proven, 41 were pathogenic, 118 benign and 121 of unknown clinical significance (average number of variations 3.5). In six patients with established pathogenic variations, our data revealed eight pathogenic aberrations associated with the corresponding phenotype. The interpretation of the other CNVs was made on the basis of their frequency in the investigated group, the size of the variation, content of genes in the region and the type of the CNVs (deletion or duplication).
机译：先天性异常（CA）和知识产权（IDS）的高频（3.0-5.0％）使其成为一个严重的问题，负责高百分比（33.0％）新生儿死亡率。遗传原因在40.0％的病例中仍然不清楚。最近，分子核素型化已成为多种CA和IDS患者致病性失衡的最强大的方法。该方法具有高分辨率，并使我们有机会研究和识别可以解释基因型表型相关性的候选基因。本文介绍了81例先天性畸形（CMS），发育延迟（DD）和ID患者的分析结果，其中我们使用了细胞芯片ISCA寡核苷酸，4×44k，以70 kb的分辨率覆盖全基因组。在所选择的CAS患者中，已经证明了280次拷贝数变异（CNV），41例致病，118个良性和121个未知的临床意义（平均变异数量3.5）。在六名患有致病性变化的六个患者中，我们的数据揭示了与相应表型相关的八种致病畸变。在研究组中的频率的基础上进行其他CNV的解释，该区域的变化大小，区域中基因的含量和CNV的类型（缺失或重复）。

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