• Original article (Clinical research) • Previous Articles     Next Articles

Feasibility study of the targeted next-generation sequencing technology in the diagnosis of childrens genomic disease

ZHANG Huan-huan1,2, LI Niu1, YU Ting-ting1, YAO Ru-en1, QING Yan-rong1, WANG Xiu-min1,3, SHEN Yi-ping1,4, WANG Jian1   

  1. 1.Department of Medical Genetics (Molecular Diagnostic Laboratory), Shanghai Childrens Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China;  2.Department of Clinical Laboratory, Tongren Hospital, Shanghai 200336, China; 3. Department of Endocrine and Genetic Metabolic, Shanghai Childrens Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China; 4.Department of Gene Diagnostic Laboratory, Boston Childrens Hospital, Harvard Medical School, Boston 02115, USA

  • Online:2016-09-28 Published:2016-10-31
  • Supported by:

    National Natural Science Foundation of China, 81201353， 81371903， 81472051; Project of Science and Technology Commission of Shanghai Municipality, 15410722800; Shanghai Municipal Education Commission—Gaofeng Clinical Medicine Grant Support， 20152529

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Abstract:

Objective·To perform clinical molecular diagnosis for 10 Chinese children with highly-suspected genomic disorders and to evaluate the feasibility of next generation sequencing (NGS) with target capture library in decteting copy number variants (CNVs). Methods·All the patients were evaluated by NGS with SureSelect Inherited Diseases library. The location and size of pathogenic CNVs were identified through bioinformatics analysis. Meanwhile, chromosome microarray analysis (CMA) was used to verify these CNVs. Results·NGS results showed that a 9 345 kb duplication (3 copies) in 17q25.1—q25.3 was detected in chromosome 17 of case 1 and a 8 232 kb heterozygous deletion in 15q11.2—q13.1 was detected in chromosome 15 of case 2. No suspicious CNVs were identified in other 8 cases. The CMA testing results were highly consistent with those of NGS. Conclusion·Two patients were diagnosed with genomic disorders by molecular diagnosis approach. Our research indicates that targeted NGS technique is quite feasible for CNV detection.

Key words: copy number variations, genomic disorders, next generation sequencing, chromosome microarray analysis