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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. , (China)
  • 2 Endocrinology and Genetic Metabolism of Institute for Pediatric Research, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092,China. , (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] , (China)
Type
Published Article
Journal
Clinica chimica acta; international journal of clinical chemistry
Publication Date
May 01, 2017
Volume
468
Pages
76–80
Identifiers
DOI: 10.1016/j.cca.2017.02.009
PMID: 28215547
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

Gene variants have been reported to be associated with congenital hypothyroidism (CH), the purpose of this study was to analyze the mutation spectrum and prevalence of 12 known causative genes (TSHR, PAX8, NKX2.1, NKX2.5, FOXE1, DUOX2, TG, TPO, GLIS3, NIS, SLC26A4 and DEHAL1) in CH in China. Peripheral venous blood samples were collected from the patients. Genomic DNA was extracted from peripheral blood leukocytes. All exons and their exon-intron boundary sequences of the 12 known CH associated genes in 66 CH patients were screened by next-generation sequencing (NGS). NGS analysis of 12 known CH associated genes revealed that 32 patients (32/66, 48.5%) were detected to have at least one potentially functional variant. 21, 9, 1, 1, 1 and 1 patients were found to have potential pathogenic variants in DUOX2, TG, PAX8, SLC26A4, TSHR and TPO genes, respectively. Novel variants included one DUOX2 and one TPO missense variants of unknown significance (VUS). 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. Copyright © 2017. Published by Elsevier B.V.

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