title: A newly identified insertion mutation in the thyroid hormone receptor-beta gene in a Korean family with generalized thyroid hormone resistance.
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.
authors.affiliation: Division of Endocrinology and Metabolism, Department of Internal Medicine, Chonbuk National University Medical School and Research Institute of Clinical Medicine, Presbyterian Medical Center, 63418 Keumam-dong, Dukjin-gu, Jeonju, Korea.
authors.forename: Ji Hye
authors.initials: JH
authors.lastname: Kim
authors.forename: Tae Sun
authors.initials: TS
authors.lastname: Park
authors.forename: Hong Sun
authors.initials: HS
authors.lastname: Baek
authors.forename: Gu Hwan
authors.initials: GH
authors.lastname: Kim
authors.forename: Han Wook
authors.initials: HW
authors.lastname: Yoo
authors.forename: Ji Hyun
authors.initials: JH
authors.lastname: Park
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D004252:DNA Mutational Analysis; D005091:Exons; D005192:Family Health; D005260:Female; D006801:Humans; D007723:Korea; D008297:Male; D009154:Mutation; D037042:Thyroid Hormone Receptors beta / Q000235:genetics*; D018382:Thyroid Hormone Resistance Syndrome / Q000235:genetics* / Q000628:therapy
chemical_list: D037042:Thyroid Hormone Receptors beta