Yücel Şen Arife Derda, Carman Kursat Bora, Doğan Çağrı, Şen Mustafa, Yarar Coşkun
Department of Pediatric Neurology, Eskisehir Osmangazi University Faculty of Medicine, Eskisehir, Turkey.
Faculty of Medicine, Department of Medical Genetics, Ordu University, Ordu, Turkey.
J Neurogenet. 2025 Jun-Sep;39(2-3):65-69. doi: 10.1080/01677063.2025.2525868. Epub 2025 Jul 6.
Congenital mirror movement disorder refers to involuntary movements on one side of the body that mimic the deliberate movements on the opposite side. Congenital mirror movement is primarily associated with mutations in the DCC netrin-1 receptor (DCC) gene.
A 3-year-old child had been involuntarily grasping with one hand and then the other from infancy. His neuromotor development corresponded with that of his contemporaries. Identical unusual movements were also observed in his father, uncle, and grandmother within his family heritage. In the family where identical observations were noted throughout three generations, the mildest manifestations were reported in the grandmother, but our patient, the index case, had more significant symptoms. The quadruple WES study of the family indicated that all clinically symptomatic individuals harbored a nonsense mutation in the DCC gene.
Mirror movements, typically identified in childhood, may result from genetic or neurological disorders. This study presents four individuals from the same family diagnosed with congenital mirror movement disorder.
先天性镜像运动障碍是指身体一侧的非自主运动模仿对侧的随意运动。先天性镜像运动主要与DCC神经纤毛蛋白-1受体（DCC）基因突变有关。
一名3岁儿童自婴儿期起就出现一只手然后另一只手不自主抓握的情况。他的神经运动发育与同龄人相当。在其家族遗传中，他的父亲、叔叔和祖母也观察到了相同的异常运动。在三代人都有相同观察结果的这个家族中，祖母的症状最轻，但我们的患者，即索引病例，症状更明显。对该家族进行的四重全外显子组测序研究表明，所有有临床症状的个体在DCC基因中都存在无义突变。
镜像运动通常在儿童期被发现，可能由遗传或神经系统疾病引起。本研究介绍了来自同一家庭的四名被诊断为先天性镜像运动障碍的个体。
