Phenotype differences of resistance to thyroid hormone in two unrelated families with an identical mutation in the thyroid hormone receptor beta gene (R320C).
Phenotype differences of resistance to thyroid hormone in two unrelated families with an identical mutation in the thyroid hormone receptor beta gene (R320C).
复制标题
甲状腺激素受体β基因（R320C）具有相同突变的两个不相关家族的甲状腺激素抵抗表型差异。
DOI：
10.1089/thy.1997.7.35
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发表时间：
1997
期刊：
影响因子：
--
通讯作者：
Refetoff,S
中科院分区：
文献类型：
--
作者：
Weiss,RE;Tunca,H;Knapple,WL;Faas,FH;Refetoff,S
报道一个新的甲状腺激素抵抗（RTH）家系，其甲状腺激素受体（TR）β基因（R320C）突变。将受累成员的表型与TRβ基因独立发生相同突变的无关家族受累成员的表型进行比较。在两个家庭中的一个，较高浓度的游离T4需要维持正常的TSH水平在受影响的主题和未受影响的一级亲属，但不是在亲属的婚姻。虽然这一发现表明遗传背景调节了由突变TRβ引起的对甲状腺激素的相对不敏感性，但尚不确定较高的甲状腺激素水平是否可以预防多动症和注意力缺陷的发生。
A new family with resistance to thyroid hormone (RTH) harboring a mutation in the thyroid hormone receptor (TR) β gene (R320C) is reported. The phenotype of affected members is compared to that of affected members of an unrelated family with an identical mutation in the TRβ gene that occurred independently. In one of the two families higher concentrations of free T4were required to maintain a normal TSH level in affected subjects and unaffected first degree relatives but not in relatives by marriage. While this finding suggests that genetic background modulated the relative insensitivity to thyroid hormone caused by the mutant TRβ, it is uncertain whether the higher thyroid hormone levels prevented the occurrence of hyperactivity and attention deficit.