临床儿科杂志 第 37 卷第 11 期 2019 年 11 月 J Clin Pediatr Vol.37 No.11 Nov. 2019· 854 ·
doi:10.3969/j.issn.1000-3606.2019.11.014通信作者：陈燕惠 电子信箱：yanhui_ Temple-Baraitr 综合征1例临床及遗传学分析
胡 君 林晓霞 邱鸣琦 柯钟灵 吴传军 陈燕惠
福建省儿科临床重点专科 福建医科大学儿童神经心理发育研究中心 福建医科大学附属协和医院
儿科
（福建福州350001）摘要： 目的 分析Temple-Baraitr 综合征（TMBTS ）的临床及遗传学特点。
方法 回顾分析1例TMBTS 患儿的临床特征和KCNH1基因突变特点，并复习相关文献。结果 7月龄男婴，自新生儿期即出现肌张力低下和视觉接触不良，
抬头不稳，不会用手抓物，不会坐。面容特殊（前额扁平，眼距稍宽，鼻梁凹陷，长人中伴高腭穹，嘴唇偏厚伴嘴角下垂）
发明大王爱迪生。手足指（趾）甲发育不良。四肢肌力Ⅳ级、肌张力减低。基因检测显示KCNH1基因变异c.1136t>C ，
p.Leu 379Pro ，相关软件预测为致病变异，从而确诊为TMBTS 。文献复习显示，TMBTS 与Zimmermann-Laband 综合征的临床特征相似，致病
性KCNH1基因相同，需详细的临床资料及KCNH1基因信息以明确诊断。结论 基因检测有助于TMBTS 诊断，发现新的
KCNH1基因变异。
血糖高要吃什么
关键词： Temple-Baraitr 综合征； 发育障碍； KCNH1基因； 错义突变； 婴儿
毛细血管壁>艾青代表作Clinical and genetic features of children with Temple-Baraitr syndrome HU Jun, LIN Xiaoxia, QIU Mingqi, KE Zhongling, WU Chuanjun, CHEN Yanhui (Key Clinical Specialty of Children in Fujian Province; Rearch Center for Children's Neuropsychological Development of Fujian Medical University; Department of Pediatrics, Fujian Medical University Union Hospital, Fuzhou 350001, Fujian, China)
动物繁殖行为
Abstract: Objective To investigate the clinical features and gene mutation of Temple-Baraitr syndrome (TMBTS). Methods The clinical data of a male infant with TMBTS were retrospectively analyzed. The clinical manifestations and genetic mutations of children with TMBTS were summarize
d. Results The 7-month-old male proband visited our clinic becau of motor developmental delay for half a year. The infant prented with marked hypotonia and poor visual contact during the neonatal period. His face was myopathic and he had a flat forehead, hypertelorism, broad depresd nasal bridge, thick alae nasi, full cheeks, long shallow philtrum, and a broad mouth with downturned corners. Nails were hypoplastic on both thumbs and great toes. Halluces were unusually long and tubular. The other fingernails were slightly hypoplastic. He was unable to hold his head up, grip toy, turn over, sit, and creep. His muscle strengths of limbs were of grade IV. The knee jerk reflex was normal. Pathological signs were negative. Whole exome quencing of the proband and his parents revealed a de novo misn mutation in the TMBTS infant: c.1136T>C, p.Leu379Pro in KCNH1. This mutation in KCNH1 was predicted to be damaging. In addition, literatures review showed clinical features of TMBTS is remble to that of Zimmermann-Laband syndrome. More information of KCNH1 mutations and detailed clinical features are needed to distinguish the two syndromes. Conclusions Our findings expand the mutational spectrum of KCNH1 in TMBTS, which provides a basis for the diagnosis, treatment and genetic counling of TMBTS.
Key words: Temple-Baraitr syndrome; developmental disorder; KCNH1 gene; misn mutation; infant
爱新疆Temple-Baraitr 综合征
（Temple-Baraitr syndrome ，TMBTS ，OMIM #611816）是一种罕见的发
小猫的生活习性育障碍性疾病，临床表现为重度智力低下、肌张力低
山根痣的准确位置图
下、癫痫、指（趾）甲缺失或发育不全，并伴有轻微面
部畸形等[1-8]。
TMBTS 主要由KCNH1基因突变所致[6-8]。功能学研究表明，TMBTS 相关的KCNH1基因突变使KCNH1通道过度活化，破坏了神经元细胞的增生（或迁移）及活性而致病[6]。本文探讨1例TMBTS 患儿的临床特征及其KCNH1基因突变特点，并复习相关文献，旨在为本病的诊治提供参考。
