Abstract：
The rare genetic variants 16p11.2 duplication and 16p11.2 deletion have opposing effects on brain structure and function, yet are associated with broadly similar clinical phenotypes that include autism, intellectual impairment, psychiatric illness, and motor difficulties. In recent years, studies have identified subtle distinctions between the phenotypic effects of 16p11.2 duplication and 16p11.2 deletion with respect to patterns of autism, intellectual impairment, and psychiatric illness. However, although divergent phenotypic findings in some motor domains have been reported, no study has yet made a comprehensive comparison of motor difficulties between 16p11.2 deletion and 16p11.2 duplication carriers to elucidate points of convergence and divergence. We sought to make such a comparison in a group of 133 16p11.2 deletion carriers, 122 duplication carriers, and 388 familial controls, hypothesizing that motor impairment would overall be greater in deletion than duplication carriers. In a series of regression models, we found that 16p11.2 deletion status tended to predict greater impairment along indices of gross motor function, but less impairment along indices of fine motor function. These findings point to a potential pattern of performance difficulties that could be investigated in future studies. Elucidating motor differences between 16p11.2 duplication and 16p11.2 deletion carriers may help in understanding the complex effect of 16p11.2 copy number variation and other rare genetic causes of autism.
摘要：
罕见的遗传变异16p11.2复制和16p11.2缺失对脑结构和功能有相反的影响，但与包括自闭症在内的广泛相似的临床表型相关，智力障碍，精神病,和电机困难。近年来,研究发现，在自闭症模式方面，16p11.2复制和16p11.2缺失的表型效应之间存在细微的区别，智力障碍，和精神疾病。然而,尽管已经报道了一些运动领域的不同表型发现，尚未有研究对16p11.2缺失和16p11.2重复携带者之间的运动困难进行全面比较，以阐明收敛和发散点。我们试图在一组13316p11.2缺失载体中进行这样的比较，122个复制载体，和388个家族控制，假设删除时的运动障碍总体上比重复携带者更大。在一系列回归模型中，我们发现16p11.2缺失状态倾向于沿着粗大运动功能指数预测更大的损害，但对精细运动功能指数的损害较小。这些发现指出了性能困难的潜在模式，可以在未来的研究中进行调查。阐明16p11.2复制和16p11.2缺失携带者之间的运动差异可能有助于理解16p11.2拷贝数变异的复杂效应和自闭症的其他罕见遗传原因。
