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Mutation screening of the GLIS3 gene in a cohort of 592 Chinese patients with congenital hypothyroidism.

Authors
  • Fu, Chunyun1
  • Luo, Shiyu2
  • Long, Xigui3
  • Li, Yingfeng4
  • She, Shangyang4
  • Hu, Xuehua4
  • Mo, Meizhen5
  • Wang, Zhanghong5
  • Chen, Yuhua5
  • He, Chun5
  • Su, Jiasun6
  • Zhang, Yue6
  • Lin, Fei6
  • Xie, Bobo6
  • Li, Qifei7
  • Chen, Shaoke8
  • 1 Medical Science Laboratory, Children's Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, China; Department of Pathology, Children's Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, China; Department of Genetic Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, China; Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, Nanning 530003, China. , (China)
  • 2 Department of Genetic Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, China; Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, Nanning 530003, China. , (China)
  • 3 National Laboratory of medical Genetics, Central South University, Changsha, 410000, China. , (China)
  • 4 Medical Science Laboratory, Children's Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, China; Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, Nanning 530003, China. , (China)
  • 5 Department of Pathology, Children's Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, China. , (China)
  • 6 Department of Genetic Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, China. , (China)
  • 7 Department of Genetic Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, China; Guangxi Huayin Medical Laboratory Center, Nanning 530012, China. Electronic address: [email protected] , (China)
  • 8 Department of Genetic Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, China; Guangxi Huayin Medical Laboratory Center, Nanning 530012, China. Electronic address: [email protected] , (China)
Type
Published Article
Journal
Clinica chimica acta; international journal of clinical chemistry
Publication Date
Nov 13, 2017
Volume
476
Pages
38–43
Identifiers
DOI: 10.1016/j.cca.2017.11.011
PMID: 29146476
Source
Medline
Keywords
License
Unknown

Abstract

Our study indicated that the prevalence of GLIS3 variations was 0.3% among studied Chinese CH patients. Multiple variations in one or more CH associated genes can be found in one patient. We found a novel GLIS3 variation c.2159G>A (p.R720Q), thereby expanding the variation spectrum of the gene.

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