Luo Shiyu, Fu Chunyun, Zhang Shujie, Wang Jin, Fan Xin, Luo Jingsi, Chen Rongyu, Hu Xuyun, Qin Haisong, Li Chuan, Ou Shan, Li Qifei, Chen Shaoke
Central Laboratory for Genetic and Metabolic Diseases, Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Institute of Birth Defect Control and Prevention of Guangxi Zhuang Autonomous Region, Nanning, Guangxi 530012, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Jun 10;34(3):321-326. doi: 10.3760/cma.j.issn.1003-9406.2017.03.002.
To explore the value of single nucleotide polymorphism array (SNP-array) for the analysis of pediatric patients with growth retardation.
One hundred eighty one children with growth retardation were enrolled. DNA was extracted from peripheral samples from the patients, and whole genome copy number variations (CNVs) were detected using Illumina Human Cyto SNP-12. All identified CNVs were further analyzed with reference to databases including ClinGen, ClinVar, DECIPHER, OMIM and DGV as well as comprehensive review of literature from PubMed to determine their pathogenicity.
Forty seven patients (26%) with abnormal CNVs were detected, which included 12 known microdeletions/microduplications syndrome (26%), 10 pathogenic non-syndromic CNVs (21%), 3 numerical chromosome aberrations (6%), 3 unbalanced translocations (6%), 4 pathogenic mosaicisms (9%) and 15 cases with unknown clinical significance (32%). After excluding obvious numerical and/or structural chromosomal abnormalities, this study has detected 15 pathogenic microdeletions/microduplications sized 5 Mb or less, which may be missed by routine chromosomal karyotyping. In addition, there were 3 cases with loss of heterozygoisty (LOH) containing known or predicted imprinting genes as well as 2 cases with suspected parental consanguinity.
SNP-array technology is a powerful tool for the genetic diagnosis of children with growth disorders with advantages of high resolution and improved accuracy.
探讨单核苷酸多态性芯片（SNP芯片）在分析生长发育迟缓儿科患者中的价值。
纳入181例生长发育迟缓儿童。从患者外周血样本中提取DNA，使用Illumina Human Cyto SNP-12检测全基因组拷贝数变异（CNV）。所有鉴定出的CNV均参照ClinGen、ClinVar、DECIPHER、OMIM和DGV等数据库进一步分析，并全面回顾PubMed上的文献以确定其致病性。
检测到47例（26%）CNV异常的患者，其中包括12例已知的微缺失/微重复综合征（26%）、10例致病性非综合征性CNV（21%）、3例染色体数目畸变（6%）、3例不平衡易位（6%）、4例致病性嵌合体（9%）和15例临床意义不明的病例（32%）。排除明显的染色体数目和/或结构异常后，本研究检测到15例大小为5 Mb或更小的致病性微缺失/微重复，这些可能是常规染色体核型分析遗漏的。此外，有3例杂合性缺失（LOH）病例包含已知或预测的印记基因，还有2例疑似近亲结婚的病例。
SNP芯片技术是诊断生长发育障碍儿童的有力工具，具有分辨率高和准确性提高的优点。
