Mutation screening of DUOX2 in Chinese patients with congenital hypothyroidism

Journal of Endocrinological Investigation
C FuS Chen

Abstract

Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder in infancy. Dual oxidase 2 gene (DUOX2) mutations have been reported to be one of the leading genetic causes of CH. The aim of this study was to screen for DUOX2 gene mutations among CH patients in the Guangxi Zhuang Autonomous Region of China and to define the relationships between DUOX2 genotypes and clinical phenotypes. Blood samples were collected from 45 CH patients in Guangxi Zhuang Autonomous Region, China, and genomic DNA was extracted from peripheral blood leukocytes. All exons of the DUOX2 gene together with their exon-intron boundaries were screened by Sanger sequencing. Sequencing analysis of DUOX2 in 45 CH patients revealed ten different variants in thirteen individuals. The variants included five known mutations, namely c.3329G>A (p.R1110Q), c.1588A>T (p.K530X), c.2635G>A (p.E879K), c.2524C>T (p.R842X) and c.4027G>T (p.L1343F), and one novel frame shift variant c.3340delC (p.L1114SfsX56), as well as four novel missense variants c.903G>T (p.W301C), c.2048G>T (p.R683L), c.1736T>C (p.L579P) and c.3413C>A (p.A1138D). The variant p.K530X is highly recurrent in our patient cohort but the clinical phenotypes vary greatly among those carrying th...Continue Reading

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Citations

Jan 9, 2016·European Journal of Endocrinology·Yoshihiro MaruoYoshihiro Takeuchi
Apr 25, 2016·Clinica Chimica Acta; International Journal of Clinical Chemistry·Chunyun FuShaoke Chen
Aug 9, 2016·European Journal of Medical Genetics·Hong JiangKuichun Zhu
Dec 29, 2015·Annals of Laboratory Medicine·Kyoung-Jin ParkJong-Won Kim
Jun 22, 2017·The Journal of Clinical Endocrinology and Metabolism·Zehra AycanNadia Schoenmakers
Aug 30, 2018·International Journal of Endocrinology·Xi ChenHuijuan Wang

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