天津医药

天津医药 ›› 2020, Vol. 48 ›› Issue (2): 132-136.doi: 10.11958/20193176

• 临床研究 • 上一篇    下一篇

一个导致Allan-Herndon-Dudley综合征的 SLC16A2基因新突变

辛庆刚 1，赵澎 1△，蔡春泉 2，陈静 3，陈淑娟 1，盛倩倩 1   

  1. 1天津市儿童医院康复科（邮编300134），2神经外科，3医学影像科
  • 收稿日期:2019-10-22 修回日期:2019-12-05 出版日期:2020-02-15 发布日期:2020-02-15
  • 通讯作者: 赵澎 E-mail:patrickzhao@163.com

Identification of a novel SLC16A2 mutation that causes Allan-Herndon-Dudley syndrome

XIN Qing-gang1, ZHAO Peng1△, CAI Chun-quan2, CHEN Jing3, CHEN Shu-juan1, SHENG Qian-qian1   

  1. 1 Department of Rehabilitation, 2 Department of Neurosurgery, 3 Department of Medical Imaging, Tianjin Children's Hospital, Tianjin 300134, China
  • Received:2019-10-22 Revised:2019-12-05 Published:2020-02-15 Online:2020-02-15

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摘要： 摘要：Allan-Herndon-Dudley综合征（AHDS）为具有特异性的临床表现及甲状腺功能改变的罕见遗传病。系因 SLC16A2致病变异导致特异性甲状腺素转运蛋白MCT8缺陷而致病。本文报告1例全面发育迟缓、肌张力障碍、甲状 腺功能异常患儿，经二代测序发现其SLC16A2基因4号内含子存在c.1170+1G>A半合子突变，综合分析该变异为致 病突变，数据库中未检索到该变异的既往报道。该变异丰富了SLC16A2基因致病突变谱。

关键词: 智力障碍, 序列分析, 甲状腺功能试验, Allan-Herndon-Dudley综合征, SLC16A2基因

Abstract: Abstract: Allan-Herndon-Dudley syndrome (AHDS) is a rare genetic disease with specific clinical manifestations and thyroid function changes. The disease is caused by a defect in the specific thyroid transporter MCT8 caused by the SLC16A2 pathogenic mutation. This article reports a child with global developmental delay, dystonia and thyroid dysfunction. A c.1170+1G>A hemizygous mutation in the intron 4 of the SLC16A2 gene was found with next-generation sequencing. No previous reports of this mutation were found in the databases. The variation enriched the pathogenic mutation spectrum of the SLC16A2 gene.

Key words: intellectual disability, sequence analysis, thyroid function tests, Allan-Herndon-Dudley syndrome, SLC16A2 gene