Feng-Yao Wu, Rui-Meng Yang, Hai-Yang Zhang, Ming Zhan, Ping-Hui Tu, Ya Fang, Cao-Xu Zhang, Shi-Yang Song, Mei Dong, Ren-Jie Cui, Xiao-Yu Liu, Liu Yang, Chen-Yan Yan, Feng Sun, Rui-Jia Zhang, Zheng Wang, Jun Liang, Huai-Dong Song, Feng Cheng, Shuang-Xia Zhao
BACKGROUND: In several countries, thyroid dyshormonogenesis is more common than thyroid dysgenesis in patients with congenital hypothyroidism (CH). However, known pathogenic genes are limited to those directly involved in hormone biosynthesis. The aetiology and pathogenesis of thyroid dyshormonogenesis remain unknown in many patients. METHODS: To identify additional candidate pathogenetic genes, we performed next-generation sequencing in 538 patients with CH and then confirmed the functions of the identified genes in vitro using HEK293T and Nthy-ori 3...
March 10, 2023: Journal of Medical Genetics