Abstract：
Overgrowth syndromes (OGS) comprise a heterogeneous group of disorders whose main characteristic is that the weight, height or the head circumference are above the 97th centile or 2-3 standard deviations above the mean for age, gender, and ethnic group. Several copy-number variants (CNVs) have been associated with the development of OGS, such as the 5q35 microdeletion or the duplication of the 15q26.1-qter, among many others. In this study, we have applied 850K SNP-arrays to 112 patients and relatives with OGS from the Spanish OverGrowth Registry Initiative. We have identified CNVs associated with the disorder in nine individuals (8%). Subsequently, whole genome sequencing (WGS) analysis was performed in these nine samples in order to better understand these genomic imbalances. All the CNVs were detected by both techniques, settling that WGS is a useful tool for CNV detection. We have found six patients with genomic abnormalities associated with previously well-established disorders and three patients with CNVs of unknown significance, which may be related to OGS, based on scientific literature. In this report, we describe these findings and comment on genes associated with OGS that are located within the CNV regions.
摘要：
过度生长综合征（OGS）包括一组异质性疾病，其主要特征是体重，身高或头围高于97百分位数或高于年龄平均值2-3个标准差，性别,和种族群体。一些拷贝数变体（CNVs）与OGS的发展有关，例如5q35微删除或15q26.1-qter的复制，在许多其他人中。在这项研究中,我们对西班牙OverGrowth注册计划的112例OGS患者和亲属应用了850KSNP阵列.我们已经在9个个体(8%)中鉴定了与该疾病相关的CNV。随后，我们对这9个样本进行了全基因组测序(WGS)分析,以便更好地了解这些基因组失衡.所有的CNV都通过这两种技术检测到，确定WGS是CNV检测的有用工具。我们已经发现了6例基因组异常与以前确定的疾病相关的患者和3例CNV的意义未知的患者。这可能与OGS有关，基于科学文献。在这份报告中,我们描述了这些发现，并对位于CNV区域内与OGS相关的基因进行了评论。
