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Peng Xue,1 Yuqi Yang,2 Qi Yun,1 Yue Cui,1 Bin Yu,2 Wei Long2 1Department of Pediatrics, Changzhou Children’s Hospital, Changzhou, People’s Republic of China; 2Department of Medical Genetics, Affiliated Changzhou Women and Children’s Hospital, Nanjing Medical University, Changzhou, People’s Republic of ChinaCorrespondence: Wei LongDepartment of Medical Genetics, Affiliated Changzhou Women and Children’s Hospital, Nanjing Medical University, No. 16, Dingxiang Road, Changzhou, 213000, People’s Republic of ChinaFax +86 519 8858 1350Email longwei2010@126.comPurpose: To screen variants of the thyroid stimulating hormone receptor (TSHR) gene among congenital hypothyroidism (CH) patients.Patients and Methods: We conducted a genetic screening of the TSHR gene in a cohort of 125 Chinese CH patients. Variants were detected by customized targeted next-generation sequencing.Results: A total of 11 TSHR missense heterozygous variants were identified in 14 CH patients. Six variants were in the transmembrane domains, four variants were in the leucine-rich repeats and one variant was located in the hinge region of the TSHR protein. p.F525S was the most prevalent variant with an allele frequency of 0.016, followed by p.R450H with an allele frequency of 0.012. The allele frequency of most variants was higher in our cohort than those of other populations.Conclusion: The prevalence of TSHR variants was 11.2%. Variant p.F525S was the most prevalent variant with an allele frequency of 0.016. The prevalence of TSHR variants was different from other populations.Keywords: congenital hypothyroidism, thyroid stimulating hormone receptor, variant, prevalence |
