Diagnosis of a case of 2q37 deletion syndrome by whole exome sequencing combined with whole genome low-coverage sequencing method.

Author: Hong LIN ¹ ; Lianqin BAI ; Yang YUE ; Xiaojun XI ; Wangyang CHEN ; Cheng ZHOU
Author Information

1. The Affiliated Changzhou No. 2 People's Hospital of Nanjing Medical University, Changzhou, Jiangsu 213003, China. zyb0619@126.com.
Publication Type:Journal Article
From: Chinese Journal of Medical Genetics 2020;37(8):883-886
CountryChina
Language:Chinese
Abstract: OBJECTIVE:To analyze the clinical and genetic characteristics in a girl with 2q37 deletion syndrome.
METHODS: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.
RESULTS: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.
CONCLUSION: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.