The contribution of distinct genes to overlapping phenotypes suggests that such genes share ancestral origins, membership of disease pathways, or molecular functions. A recent study by Liu and colleagues identified mutations in TCF20, a paralog of RAI1, among individuals manifesting a novel syndrome that has phenotypes similar to those of Smith-Magenis syndrome (a disorder caused by disruption of RAI1). This study highlights how structural similarity among genes contributes to shared phenotypes, and shows how this relationship can contribute to our understanding of the genetic basis of complex disorders.

中文翻译：

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遗传疾病表型相似性的分子基础

不同基因对重叠表型的贡献表明，这些基因共享祖先起源，疾病途径成员或分子功能。Liu及其同事最近进行的一项研究发现，在表现出一种新型综合征的个体中，TCF20（RAI1的旁系同源基因）的突变具有与史密斯-马格尼斯综合征（由RAI1破坏引起的疾病）相似的表型。这项研究突出了基因之间的结构相似性如何促进共有的表型，并显示了这种关系如何有助于我们对复杂疾病的遗传基础的理解。