Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population
作者: Yan WangWei PengHong-Yan GuoHui LiJie TianYu-Jing ShiXiao YangYao YangWan-Qiao ZhangXin LiuGuan-Nan LiuTao DengYi-Min SunWan-li XingJing ChengZhi-Chun Feng
作者单位: 1BaYi Children’s Hospital, Beijing Military General Hospital, 100700, Beijing, P.R. China
2National Engineering Research Center for Beijing Biochip Technology, 102206, Beijing, P.R. China
3CapitalBio Corporation, 102206, Beijing, P.R. China
4Beijing CapitalBio Medical Laboratory, 101111, Beijing, P.R. China
5Department of Biomedical Engineering, Tsinghua University School of Medicine, 100084, Beijing, P.R. China
刊名: Scientific Reports, 2016, Vol.6 (1), pp.803-808
来源数据库: Springer Nature Journal
DOI: 10.1038/srep29088
英文摘要: Abstract(#br)Neonatal hypotonia is extremely challenging to diagnose because numerous disorders present similar clinical manifestations. Two panels for diagnosing neonatal hypotonia were developed, which enriches 35 genes corresponding to 61 neonatal hypotonia-related disorders. A cohort of 214 neonates with hypotonia was recruited from 2012 to 2014 in China for this study. Of these subjects, twenty-eight neonates with hypotonia were eliminated according to exclusion criteria and 97 were confirmed using traditional detection methods. The clinical diagnoses of the remaining 89 neonates with hypotonia were approached by targeted next-generation sequencing (NGS). Among the 89 tested neonates, 25 potentially pathogenic variants in nine genes ( RYR1, MECP2, MUT, CDKL5, MPZ, PMM2, MTM1, LAMA2...
全文获取路径: Springer Nature  (合作)
影响因子:2.927 (2012)