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Next-generation sequencing analysis of twelve known causative genes in congenital hypothyroidism.

Authors
  • Fan, Xin1
  • Fu, Chunyun1
  • Shen, Yiping1
  • Li, Chuan1
  • Luo, Shiyu1
  • Li, Qifei1
  • Luo, Jingsi1
  • Su, Jiasun1
  • Zhang, Shujie1
  • Hu, Xuyun1
  • Chen, Rongyu1
  • Gu, Xuefan2
  • Chen, Shaoke3
  • 1 Department of Genetic Metabolism, Children's Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, People's Republic of China; GuangXi Center for Birth Defects Research and Prevention, Nanning 530003, People's Republic of China.
  • 2 Endocrinology and Genetic Metabolism of Institute for Pediatric Research, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092,China.
  • 3 Department of Genetic Metabolism, Children's Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, People's Republic of China; GuangXi Center for Birth Defects Research and Prevention, Nanning 530003, People's Republic of China. Electronic address: [email protected]
Type
Published Article
Journal
Clinica chimica acta; international journal of clinical chemistry
Publication Date
Feb 16, 2017
Volume
468
Pages
76–80
Identifiers
DOI: 10.1016/j.cca.2017.02.009
PMID: 28215547
Source
Medline
Keywords
License
Unknown

Abstract

Our study expands the mutation spectrum of DUOX2 and TPO genes. 48.5% CH patients had at least one potential pathogenic variant. We found relatively high frequency of DUOX2 (31.8%) and TG (13.6%) mutations in our cohort.

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