Identification and Functional Analysis of Novel Inactivating Thyrotropin Receptor Mutations in Patients with Thyrotropin Resistance

Abstract

These novel inactivating mutations contribute to understanding of the structure-function relationship of the TSH receptor. To date, all of the patients with TSH resistance resulting from TSH receptor mutations identified in Japan possessed the R450H mutation at least in one allele. These observations suggest that the R450H mutation is a commonly observed TSH receptor mutation in patients with TSH resistance in Japan.