ESPE Abstracts

Background: Congenital hypothyroidism (CH) is a common endocrine disorder with a prevalence ranging from 1:2000 to 1:4000 newborns. The majority of CH cases were reported to be associated with mutations in several genes, which including the TSH receptor gene (TSHR).

Objective and hypotheses: The aim of this study is to examine the frequency of TSHR gene mutations among CH patients in the Guangxi Zhuang Autonomous Region of China and to discover correlation between TSHR genotypes and clinical CH phenotypes.

Method: We sampled blood from 192 CH patients in Guangxi Zhuang Autonomous Region, China; and extracted genomic DNA from peripheral blood leukocytes. All exons and exon-intron boundaries of the TSHR gene were screened by next-generation sequencing (NGS).

Results: The NGS analysis of TSHR in 192 CH patients revealed four different mutations in five individuals. The mutations included one known missense variant, namely c.154C>A (p.P52T) and three novel missense variants c.1576G>A (p.A526T), c.1838A>G (p. Y613C) and c.2087T>G (p.F696C).

Conclusion: The prevalence of TSHR mutations was 2.6% among Zhuang Chinese. Our study expands the knowledge of TSHR mutation spectrum and provides with an accurate estimation of mutation rate in Zhuang Chinese CH population.

Funding: We thank the National Natural Science Foundation of China (81260126) and Guangxi Natural Science Foundation Program (2012GXNSFAA053174) for financial support.