PDF(Pubmed)
Abstract：
BACKGROUND: In this study, we used targeted next-generation sequencing (NGS) to investigate the genetic basis of congenital hypothyroidism (CH) in a 19-year-old Tunisian man who presented with severe hypothyroidism and goiter.
METHODS: The propositus reported the appearance of goiter when he was 18. Importantly, he did not show signs of mental retardation, and his growth was proportionate. A partial organification defect was detected through the perchlorate-induced iodide discharge test. NGS identified a novel homozygous mutation in exon 18 of the SLC26A7 gene (P628Qfs*11), which encodes for a new iodide transporter. This variant is predicted to result in a truncated protein. Notably, the patient\'s euthyroid brother was heterozygous for the same mutation. No renal acid-base abnormalities were found and the administration of 1 mg of iodine failed to correct hypothyroidism.
CONCLUSIONS: We described the first case of goitrous CH due to a homozygous mutation of the SLC26A7 gene diagnosed during late adolescence.
METHODS: The propositus reported the appearance of goiter when he was 18. Importantly, he did not show signs of mental retardation, and his growth was proportionate. A partial organification defect was detected through the perchlorate-induced iodide discharge test. NGS identified a novel homozygous mutation in exon 18 of the SLC26A7 gene (P628Qfs*11), which encodes for a new iodide transporter. This variant is predicted to result in a truncated protein. Notably, the patient\'s euthyroid brother was heterozygous for the same mutation. No renal acid-base abnormalities were found and the administration of 1 mg of iodine failed to correct hypothyroidism.
CONCLUSIONS: We described the first case of goitrous CH due to a homozygous mutation of the SLC26A7 gene diagnosed during late adolescence.
摘要：
背景：在这项研究中，我们使用靶向下一代测序(NGS)研究了一名19岁突尼斯男性患有严重甲状腺功能减退症和甲状腺肿的先天性甲状腺功能减退症(CH)的遗传基础.
方法：患者18岁时出现甲状腺肿。重要的是,他没有智力低下的迹象，他的成长是相称的。通过高氯酸盐诱导的碘化物放电测试检测到部分有机化缺陷。NGS在SLC26A7基因（P628Qfs*11）的第18外显子中发现了一个新的纯合突变，编码一种新的碘化物转运蛋白。预测该变体产生截短的蛋白质。值得注意的是,患者的甲状腺功能正常的兄弟是相同突变的杂合子。未发现肾脏酸碱异常，服用1mg碘未能纠正甲状腺功能减退。
结论：我们描述了由于在青春期后期诊断的SLC26A7基因纯合突变导致的第一例甲状腺肿性CH。
方法：患者18岁时出现甲状腺肿。重要的是,他没有智力低下的迹象，他的成长是相称的。通过高氯酸盐诱导的碘化物放电测试检测到部分有机化缺陷。NGS在SLC26A7基因（P628Qfs*11）的第18外显子中发现了一个新的纯合突变，编码一种新的碘化物转运蛋白。预测该变体产生截短的蛋白质。值得注意的是,患者的甲状腺功能正常的兄弟是相同突变的杂合子。未发现肾脏酸碱异常，服用1mg碘未能纠正甲状腺功能减退。
结论：我们描述了由于在青春期后期诊断的SLC26A7基因纯合突变导致的第一例甲状腺肿性CH。
