Resistance to Thyroid Hormone Caused by a G344R Mutation of Thyroid Hormone Receptor Beta Gene: A Case Report StudyWenli Yang1, Jie Yan1 and Yanmei Sang2*
- Corresponding Author:
- Yanmei Sang
Endocrinology, Genetic and metabolic center
Beijing Children’s Hospital
Capital Medical University, Beijing, 100045, China
Tel: +86 10 8391 1000
E-mail: [email protected]
Received Date: February 29, 2016; Accepted Date: March 28, 2016; Published Date: April 04, 2016
Citation: Yang W, Yan J, Sang Y (2016) Resistance to Thyroid Hormone Caused by a G344R Mutation of Thyroid Hormone Receptor Beta Gene: A Case Report Study. Endocrinol Metab Syndr 5:231. doi:10.4172/2161-1017.1000231
Copyright: © 2016 Yang W, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Background: Resistance to thyroid hormone (RTH), is a rare genetic disease. The aim of this research is to study a pediatric case of resistance to thyroid hormone (RTH) and its clinical manifestation. Methods: An infant demonstrating resistance to thyroid hormone (RTH) and her parents were subjected to THRB gene analysis by PCR amplification of peripheral blood DNA. The sequences were aligned and compared. Results: A heterozygous mutation, c.1030G>C, was found in exon 10 of THRB gene resulting in an amino acid substitution, G344R, in the encoded protein. Conclusion: In Chinese children, a heterozygous mutation of c.1030G>C in THRB gene may cause RTHS.