Onigata K, Yagi H, Sakurai A, Nagashima T, Nomura Y, Nagashima K, Hashizume K, Morikawa A
Department of Pediatrics, Gunma University School of Medicine, Japan.
Thyroid. 1995 Oct;5(5):355-8. doi: 10.1089/thy.1995.5.355.
Resistance to thyroid hormone (RTH) is characterized by variable tissue hyporesponsiveness to thyroid hormones. Recently, a large number of different point mutations have been identified in the c-erbA beta thyroid hormone receptor (TR beta) in subjects with RTH. We describe a Japanese family with RTH with a novel point mutation in exon 7 of the TR beta gene. A single nucleotide substitution, guanine for adenine, was identified at the second position of codon 243 located in the hinge domain between the ligand binding and DNA binding domains in one of the two alleles of the proband and his mother, resulting in the substitution of the normal arginine (CGG) with a glutamine (CAG). Except for one family, point mutations so far described in RTH are clustered at exons 8-10 of the TR beta gene. This report presents a novel mutation in the characteristic portion in exon 7 of the TR beta.
甲状腺激素抵抗（RTH）的特征是组织对甲状腺激素的反应性可变降低。最近，在患有RTH的受试者中，已在c-erbAβ甲状腺激素受体（TRβ）中鉴定出大量不同的点突变。我们描述了一个患有RTH的日本家族，其TRβ基因外显子7存在一个新的点突变。在先证者及其母亲的两个等位基因之一中，位于配体结合域和DNA结合域之间的铰链区的密码子243的第二个位置，鉴定出单个核苷酸取代，即腺嘌呤被鸟嘌呤取代，导致正常的精氨酸（CGG）被谷氨酰胺（CAG）取代。除了一个家族外，迄今为止在RTH中描述的点突变集中在TRβ基因的外显子8-10。本报告呈现了TRβ外显子7特征部分的一个新突变。
