Department of Pediatrics, Shengli Oil Field Central Hospital, Dongying, China.
Clin Dysmorphol. 2021 Jan;30(1):27-31. doi: 10.1097/MCD.0000000000000345.
Temple-Baraitser syndrome (TMBTS; OMIM: 611816) is a rare developmental disorder characterized by severe mental retardation and anomalies of thumb and great toe with absence/hypoplasia of the nails. Here, we report an additional patient with TMBTS, review clinical and radiological features of previously reported cases and discuss mode of inheritance. The patient exhibited a pattern of anomalies: mild dysmorphic facial features with a wide open mouth, a thick vermilion border of the upper lip and downturned corners of the mouth; nails were absent on both great toes and thumb. Electroencephalogram showed a diffusely slow background. Whole genome sequencing identified one pathogenic missense mutation in KCNH1 (c. 1529 A > C; Asn510Thr) in this TMBTS patient. The mutation was also validated by Sanger sequencing.
坦普尔-巴赖特综合征（Temple-Baraitser syndrome，TMBTS；OMIM：611816）是一种罕见的发育障碍性疾病，其特征为严重智力障碍以及拇指和大脚趾的畸形，表现为指甲缺失/发育不良。本文报道了 1 例 TMBTS 患者，对先前报道的病例的临床和影像学特征进行了复习，并讨论了其遗传方式。该患者表现为以下畸形特征：轻度面部畸形，口张大，上唇红唇宽厚，口角下斜；两个大脚趾和拇指的指甲缺失。脑电图显示弥漫性背景减慢。全基因组测序在该 TMBTS 患者中发现 KCNH1 基因 1 个致病性错义突变（c.1529A>C；Asn510Thr）。该突变也通过 Sanger 测序得到了验证。
