A Newly Identified Insertion Mutation in the Thyroid Hormone Receptor-beta Gene in a Korean Family with Generalized Thyroid Hormone Resistance.
10.3346/jkms.2007.22.3.560
- Author:
Ji Hye KIM
1
;
Tae Sun PARK
;
Hong Sun BAEK
;
Gu Hwan KIM
;
Han Wook YOO
;
Ji Hyun PARK
Author Information
1. Division of Endocrinology and Metabolism, Department of Internal Medicine, Chonbuk National University Medical School, 634-18 Keumam-dong, Dukjin-gu, Jeonju, Korea. parkjh@chonbuk.ac.kr
- Publication Type:Case Report
- Keywords:
Thyroid Hormone Resistance Syndrome;
Thyroid Hormone Receptors Beta;
Mutation
- MeSH:
Adolescent;
Adult;
Child;
DNA Mutational Analysis;
Exons;
Family Health;
Female;
Humans;
Korea;
Male;
*Mutation;
Thyroid Hormone Receptors beta/*genetics;
Thyroid Hormone Resistance Syndrome/*genetics/therapy
- From:Journal of Korean Medical Science
2007;22(3):560-563
- CountryRepublic of Korea
- Language:English
-
Abstract:
Thyroid hormone resistance syndrome (RTH) is a rare disorder and is characterized by elevated levels of circulating free thyroid hormones, inappropriate secretion of thyroid stimulating hormone (TSH), and reduced peripheral tissue response to thyroid hormone. 90% of RTH subjects, when studied at the level of the gene, have been found to harbor mutations in the thyroid hormone receptor-beta(THRB) gene. These affected individuals have been shown to possess a variety of missense mutations, resulting from changes in a single nucleotide in the THRB gene that corresponds to amino acid alternation. However, insertion or deletion mutations in the THRB gene sequence are quite rare, and have been observed in only a very few cases. In this study, we describe two such cases, in which two members of the same family were determined to harbor an insertion mutation in exon 10, and had also been diagnosed with generalized RTH. This insertion mutation, specifically the insertion of a cytosine at nucleotide 1358 of the THRB gene, is, to the best of our knowledge, the first such mutation reported among RTH patients in Korea.
