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

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

作　　者：辛庆刚 赵澎[1] 蔡春泉[2] 陈静[3] 陈淑娟[1] 盛倩倩[1] XIN Qing-gang;ZHAO Peng;CAI Chun-quan;CHEN Jing;CHEN Shu-juan;SHENG Qian-qian(Department of Rehabilitation,Tianjin Children's Hospital,Tianjin 300134,China;Department of Neurosurgery,Tianjin Children's Hospital,Tianjin 300134,China;Department of Medical Imaging,Tianjin Children's Hospital,Tianjin 300134,China)

机构地区：[1]天津市儿童医院康复科,300134 [2]天津市儿童医院神经外科,300134 [3]天津市儿童医院医学影像科,300134

出　　处：《天津医药》2020年第2期132-136,共5页Tianjin Medical Journal

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。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.

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 

分 类 号：R596.2[医药卫生—内科学]