Bài viết Ứng dụng kỹ thuật Giải trình tự toàn bộ vùng mã hóa trong phân tích đột biến trên bệnh nhân mắc hội chứng Ohtahara tập trung vào đánh giá phương pháp và xây dựng quy trình WES, nghiên cứu này hạn chế ở số lượng bệnh nhân nhỏ (4 bệnh nhân), phương pháp nghiên cứu là cắt ngang mô tả kết hợp hồi cứu, chưa theo dõi và đánh giá được ảnh hưởng của kết quả xét nghiệm gen lên điều trị bệnh. | VNU Journal of Science Medical and Pharmaceutical Sciences Vol. 38 No. 2 2022 83-91 Original Article Application of Whole Exome Sequencing in Mutational Analysis of Patients with Ohtahara Syndrome Nguyen Thi Quynh Mai1 3 Nguyen Le Trung Hieu2 Le Thi Khanh Van2 Nguyen Thuy Minh Thu2 Le Tran Anh Ngan2 Huynh Thi Dieu Hien1 Do Thi Thu Hang1 1 VNUHCM School of Medicine Linh Trung Thu Duc Ho Chi Minh City Vietnam 2 Children Hospital 2 14 Ly Tu Trong District 1 Ho Chi Minh City Vietnam 3 VNUHCM University of Science 227 Nguyen Van Cu District 5 Ho Chi Minh City Vietnam Received 26 June 2021 Revised 30 September 2021 Accepted 11 December 2021 Abstract Ohtahara syndrome is one of the earliest and most severe forms of developmental and epileptic encephalopathy. Over the last decade the rapid advances in molecular techniques especially in high-throughput sequencing HTS have revealed that a majority of Ohtahara patients have genetic etiology. About 20 genes have been found to be related to this syndrome so far and Next Generation Sequencing NGS technique is now an important genetic test for this syndrome. This study was conducted on 4 patients with Ohtahara syndrome referred to Children s Hospital 2 Ho Chi Minh City. Whole-exome sequencing WES following targeted analysis on 283 epileptic encephalopathy related genes was performed to identify disease-causing variants of the patients. Following multi-step bioinformatics analysis trio-based Sanger sequencing confirmation and variant classification according to standards of The American College of Medical Genetics and Genomics 2015 we have identified 2 pathogenic mutations in 2 patients OH3 KCNQ2 gt A and OH4 SCN2A gt T . The results of this study contribute to verifying the role of genetic factors in Ohtahara syndrome in Vietnamese patients. This study also confirms that NGS in general and WES in particular are reliable and useful in detecting genetic causes of Ohtahara syndrome thereby assisting in
