Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients.

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Abstract

Defects in the human dual oxidase 2 (DUOX2) gene are reported to be one of the major causes of congenital hypothyroidism (CH). This study was set to examine the DUOX2 mutation spectrum and prevalence among Chinese CH and subclinical congenital hypothyroidism (SCH) patients and to define the relationships between DUOX2 genotypes and clinical phenotypes.

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Journal

Journal ID (iso-abbrev): Clin. Chim. Acta

Title: Clinica chimica acta; international journal of clinical chemistry

Publisher: Elsevier BV

ISSN (Electronic): 1873-3492

ISSN (Print): 0009-8981

Publication date (Electronic): Jul 01 2016

Volume: 458

Affiliations

[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 ] Department of Genetic Metabolism, Children's Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, People's Republic of China; Boston Children's Hospital, Harvard Medical School, Boston 02115, MA, United States.

[3 ] Endocrinology and Genetic Metabolism of Institute for Pediatric Research, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, People's Republic of China. Electronic address: gu_xuefan@163.com.

[4 ] 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: chenshaoke123@163.com.

Article

Publisher Item ID: S0009-8981(16)30144-9

DOI: 10.1016/j.cca.2016.04.019

PubMed ID: 27108200

SO-VID: 0248d937-9030-41aa-913f-d75fc004d55d

History

Keywords: Chinese population,Dual oxidase 2 gene (DUOX2),Gene mutations,Next-generation sequencing,Subclinical congenital hypothyroidism

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Keywords: Chinese population, Dual oxidase 2 gene (DUOX2), Gene mutations, Next-generation sequencing, Subclinical congenital hypothyroidism

Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients.

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