Open AccessA Newly Identified Insertion Mutation in the Thyroid Hormone Receptor-β Gene in a Korean Family with Generalized Thyroid Hormone Resistance
Author(s) -
Ji Hye Kim,
Tae Sun Park,
Hong Sun Baek,
Gu Hwan Kim,
Han Wook Yoo,
Ji Hyun Park
Publication year - 2007
Publication title -
journal of korean medical science/journal of korean medical science
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.743
H-Index - 66
eISSN - 1598-6357
pISSN - 1011-8934
DOI - 10.3346/jkms.2007.22.3.560
Subject(s) - thyroid , thyroid hormone receptor beta , thyroid hormone receptor , missense mutation , endocrinology , exon , medicine , mutation , hormone , gene mutation , gene , biology , genetics , hormone receptor , cancer , breast cancer
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.