Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation
Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation
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DOI：
10.1016/s0140-6736(04)17226-7
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发表时间：
2004-10-16
期刊：
影响因子：
168.9
通讯作者：
Visser, T
中科院分区：
文献类型：
--
作者：
Friesema, ECH;Grueters, A;Visser, T
单羧酸转运蛋白8（MCT8）是一种甲状腺激素转运蛋白，其基因位于X染色体上。我们测试了 MCT8 突变是否会导致 5 个不相关的年轻男孩出现严重的精神运动迟缓和高血清三碘甲状腺原氨酸 (T1) 浓度。通过PCR和对其六个外显子的直接测序来分析MCT8的编码序列。在两名患者中，记录了 2.4 kb 和 24 kb 的基因缺失，在三名患者中鉴定出了错义突变 Ala150Va1、Arg171stop 和 Leu397Pro。我们认为，这种新的 X 连锁精神运动迟缓综合征是由于 T-3 通过 MCT8 进入神经元的缺陷造成的，导致 T-3 作用和代谢受损。
Monocarboxylate transporter 8 (MCT8) is a thyroid hormone transporter, the gene of which is located on the X chromosome. We tested whether mutations in MCT8 cause severe psychomotor retardation and high serum triiodothyronine (T,) concentrations in five unrelated young boys. The coding sequence of MCT8 was analysed by PCR and direct sequencing of its six exons. In two patients, gene deletions of 2.4 kb and 24 kb were recorded and in three patients missense mutations Ala150Va1, Arg171stop, and Leu397Pro were identified. We suggest that this novel syndrome of X-linked psychomotor retardation is due to a defect in T-3 entry into neurons through MCT8, resulting in impaired T-3 action and metabolism.