Lin Hong, Bai Lianqin, Yue Yang, Xi Xiaojun, Chen Wangyang, Zhou Cheng
The Affiliated Changzhou No. 2 People's Hospital of Nanjing Medical University, Changzhou, Jiangsu 213003, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Aug 10;37(8):883-886. doi: 10.3760/cma.j.issn.1003-9406.2020.08.019.
To analyze the clinical and genetic characteristics in a girl with 2q37 deletion syndrome.
Genomic DNA was extracted from peripheral blood samples taken from the patient and her parents, and was subjected to whole exome sequencing (WES) and low-coverage massively parallel copy number variation sequencing (CNV-seq). Candidate CNVs were verified by chromosomal karyotyping analysis and fluorescence quantitative PCR.
The child was found to harbor a 6 Mb heterozygous deletion in 2q37 by WES and CNV-seq. The deletion has encompassed 98 genes with a range from GBX2 to LINC01881, and was de novo in origin. The result of fluorescence quantitative PCR was consistent with that of WES and CNV-seq. However, karyotyping analysis has failed to detect the deletion.
The patient was diagnosed with 2q37 deletion syndrome. Combined WES and CNV-seq method features high resolution, high throughput, and high sensitivity, which can significant raise the diagnostic rate for patients with mental disorder, multiple malformations and unknown syndromes.
分析1例2q37缺失综合征女孩的临床及遗传学特征。
提取患者及其父母外周血样本的基因组DNA，进行全外显子组测序（WES）和低覆盖度大规模平行拷贝数变异测序（CNV-seq）。候选拷贝数变异通过染色体核型分析和荧光定量PCR进行验证。
通过WES和CNV-seq发现该患儿2q37存在一个6 Mb的杂合缺失。该缺失涵盖了从GBX2到LINC01881的98个基因，且为新发突变。荧光定量PCR结果与WES和CNV-seq结果一致。然而，核型分析未能检测到该缺失。
该患者被诊断为2q37缺失综合征。联合WES和CNV-seq方法具有高分辨率、高通量和高灵敏度的特点，可显著提高精神障碍、多发畸形及不明综合征患者的诊断率。
