Department of Pediatrics, Inje University College of Medicine, Haeundae Paik Hospital, Busan, South Korea.
Gene. 2013 Dec 15;532(2):307-9. doi: 10.1016/j.gene.2013.07.067. Epub 2013 Sep 9.
Individuals with Mowat-Wilson syndrome (MWS; OMIM#235730) have characteristic facial features, a variety of congenital anomalies such as Hirschsprung disease, and intellectual disabilities caused by mutation or deletion of ZEB2 gene. This deletion or cytogenetic abnormality has been reported primarily from Europe, Australia and the United States, but not in Korea. Here we report a patient with characteristic facial features of MWS, developmental delay and spasticity. High resolution microarray analysis revealed 0.9 Mb deletion of 2q22.3 involving two genes: ZEB2 and GTDC1. This case shows the important role of high resolution microarray in patients with unexplained psychomotor retardation and/or facial dysmorphism. Knowledge about the most striking clinical signs and implementation of effective molecular tests like microarray could significantly increase the detection rate of new cases of MWS in Korea. This is the first reported case of MWS in Korea.
Mowat-Wilson 综合征（MWS；OMIM#235730）患者具有特征性面部特征、多种先天性异常，如先天性巨结肠和 ZEB2 基因突变或缺失引起的智力障碍。这种缺失或细胞遗传学异常主要在欧洲、澳大利亚和美国报道过，但在韩国没有报道。本文报道了一位具有 MWS 特征性面部特征、发育迟缓及痉挛的患者。高分辨率微阵列分析显示 2q22.3 涉及 ZEB2 和 GTDC1 两个基因的 0.9Mb 缺失。该病例表明高分辨率微阵列在不明原因精神运动发育迟缓及/或面部畸形患者中的重要作用。了解最显著的临床体征并实施有效的分子检测（如微阵列）可显著提高韩国新病例的检出率。这是韩国首例 MWS 报告病例。
