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The TPO mutation screening and genotype-phenotype analysis in 230 Chinese patients with congenital hypothyroidism.

Molecular and cellular endocrinology - 15 Apr 2020

Zhang Rui-Jia, Sun Feng, Chen Feng, Fang Ya, Yan Chen-Yan, Zhang Chang-Run, Ying Ying-Xia, Wang Zheng, Zhang Cao-Xu, Wu Feng-Yao, Han Bing, Liang Jun, Zhao Shuang-Xia, Song Huai-Dong

Abstract excerpt

Inborn defects in thyroid hormone biosynthesis contribute to nearly half of congenital hypothyroidism (CH) cases in China. The thyroid peroxidase (TPO) mutation is one of the most frequent mutations that results in thyroid dyshormonogenesis. In this study, 35 non-synonymous mutations in 15 TPO sites, including 6 novel mutations, were identified in 230 Chinese patients with CH. The enzyme activity of the mutations...

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PMID: 32088313
DOI: 10.1016/j.mce.2020.110761

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