Pathogenic variants in the gene encoding deleted in colorectal cancer (DCC) are the first genetic cause of isolated agenesis of the corpus callosum (ACC). Here we present the detailed neurological, brain magnetic resonance imaging (MRI), and neuropsychological characteristics of 12 individuals from three families with pathogenic variants in DCC (aged 8–50y), who showed ACC and mirror movements (n=5), mirror movements only (n=2), ACC only (n=3), or neither ACC nor mirror movements (n=2). There was heterogeneity in the neurological and neuroimaging features on brain MRI, and performance across neuropsychological domains ranged from extremely low (impaired) to within normal limits (average). Our findings show that ACC and/or mirror movements are associated with low functioning in select neuropsychological domains and a DCC pathogenic variant alone is not sufficient to explain the disability.

中文翻译：

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胼胝体发育不全和先天性镜像运动：与 DCC 突变相关的结果

结直肠癌 (DCC) 中缺失的编码基因的致病变异是孤立的胼胝体 (ACC) 发育不全的第一个遗传原因。在这里，我们介绍了来自三个具有 DCC 致病变异家族的 12 名个体的详细神经学、脑磁共振成像 (MRI) 和神经心理学特征（年龄 8-50 岁），他们表现出 ACC 和镜像运动 (n=5)、镜像运动仅 (n=2)、仅 ACC (n=3) 或既不 ACC 也不镜像移动 (n=2)。脑 MRI 的神经和神经影像学特征存在异质性，神经心理学领域的表现从极低（受损）到正常范围内（平均）不等。