Department of Internal Medicine II, Klinikum Grosshadern, Ludwig-Maximilians-University Munich, Germany.
Mol Cell Endocrinol. 2010 Jun 30;322(1-2):56-63. doi: 10.1016/j.mce.2010.02.007. Epub 2010 Feb 12.
Molecular cloning of the NIS gene in 1996 allowed examination of the molecular basis of congenital hypothyroidism due to iodide transport defect (ITD) many years after the first case was described by Federman et al. in 1958. Since 1997, when the first NIS mutation causing ITD was identified and characterized, 12 different NIS molecular defects have been described in 31 ITD patients. Interestingly, marked clinical heterogeneity between patients with the same NIS mutation and in patients with different mutations in the NIS gene without a clear genotype-phenotype correlation has been observed. The study of NIS mutations as the molecular basis of ITD has not only yielded extremely valuable structure/function information on NIS, but has also provided an important tool for preclinical diagnosis and genetic counseling of ITD patients.
1996 年，NIS 基因的分子克隆使得人们能够在 Federman 等人于 1958 年首次描述碘转运缺陷（ITD）导致的先天性甲状腺功能减退症的病例多年后，研究其分子基础。自 1997 年首次发现并确定导致 ITD 的 NIS 突变以来，已经在 31 例 ITD 患者中描述了 12 种不同的 NIS 分子缺陷。有趣的是，在具有相同 NIS 突变的患者和在 NIS 基因中具有不同突变但无明显基因型-表型相关性的患者之间，观察到明显的临床异质性。对 NIS 突变作为 ITD 的分子基础的研究不仅为 NIS 的结构/功能提供了极其有价值的信息，而且为 ITD 患者的临床前诊断和遗传咨询提供了重要工具。
