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Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Ed. by Bereket, Abdullah / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Fei Hong / Mericq, Veronica / Toppari, Jorma


IMPACT FACTOR 2018: 1.239

CiteScore 2018: 1.22

SCImago Journal Rank (SJR) 2018: 0.507
Source Normalized Impact per Paper (SNIP) 2018: 0.562

Online
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2191-0251
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Volume 29, Issue 5

Issues

Compound heterozygous mutations (p.T561M and c.2422delT) in the TPO gene associated with congenital hypothyroidism

Shao-Gang Ma
  • Corresponding author
  • Department of Endocrinology and Metabolism, Huai’an Hospital Affiliated to Xuzhou Medical College and Huai’an Second People’s Hospital, Huai’an, P.R. China
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  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Xiao Zheng
  • Department of Endocrinology and Metabolism, Huai’an Hospital Affiliated to Xuzhou Medical College and Huai’an Second People’s Hospital, Huai’an, P.R. China
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Ya-Li Qiu
  • Department of Neonatal screening and Care, Women and Children’s Hospital of Suqian, Suqian, P.R. China
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/ Man-Li Guo
  • Department of Endocrinology and Metabolism, Huai’an Hospital Affiliated to Xuzhou Medical College and Huai’an Second People’s Hospital, Huai’an, P.R. China
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Xiao-Juan Shao
  • Department of Endocrinology and Metabolism, Huai’an Hospital Affiliated to Xuzhou Medical College and Huai’an Second People’s Hospital, Huai’an, P.R. China
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
Published Online: 2016-04-30 | DOI: https://doi.org/10.1515/jpem-2015-0383

Abstract

Background: The objective of the study was to determine the genetic basis of goitrous congenital hypothyroidism (GCH) in Chinese siblings.

Methods: The proband and her younger brother with GCH were enrolled for molecular analysis of the dual oxidase 2 (DUOX2), dual oxidase maturation factor 2 (DUOXA2), and thyroid peroxidase (TPO) genes. Mutation screening was performed by Sanger sequencing the fragments amplified from genomic DNA. The detected mutations were verified among the close relatives of the patients and 105 controls. All participants underwent clinical examination and laboratory tests.

Results: Analysis of the TPO gene revealed two heterozygous mutations, the frameshift mutation c.2422delT in the exon14 of the TPO gene, that has been reported previously, and a novel missense mutation c.1682C>T (p.T561M) in the exon10 of the TPO gene. Nine family members of the patients were enrolled for mutation screening. The patients’ parents and grandfathers harbored a single heterozygous mutation. The germline mutations from this family were consistent with an autosomal recessive inheritance pattern. No mutations in the DUOXA2 and DUOX2 genes were observed.

Conclusions: The inactivating mutations (c.2422delT and p.T561M) in the TPO gene were identified in the Chinese siblings with GCH. The compound heterozygous mutations can cause GCH.

Keywords: congenital hypothyroidism; mutation; thyroid peroxidase

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About the article

Corresponding author: Dr. Shao-Gang Ma, Department of Endocrinology and Metabolism, Huai’an Hospital Affiliated to Xuzhou Medical College and Huai’an Second People’s Hospital, No. 62 Huaihai Road South, Huai’an 223002, P.R. China, Phone: +86-517-8394 3591, Fax: +86-517-8087 1820


Received: 2015-08-21

Accepted: 2015-12-30

Published Online: 2016-04-30

Published in Print: 2016-05-01


Citation Information: Journal of Pediatric Endocrinology and Metabolism, Volume 29, Issue 5, Pages 567–570, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem-2015-0383.

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