科学家最近发现了一些基因突变可能是纤毛类疾病发生(ciliopathies)的关键元凶,这种疾病可导致先天性缺陷,据估计每1000个新生儿中就有1人受到该类疾病影响。发表在国际学术期刊Nature Genetics上的文章中,美国德克萨斯大学的研究人员揭示了这些基因突变如何阻碍特定蛋白发挥作用,影响细胞间的信息交流。纤毛相关基因发生突变导致的先天性缺陷是多种多样的,从导致脚趾数目增加,牙齿畸形以及舌头发育异常的口-面-指综合征到引起各个 Scientists have recently discovered that some genetic mutations may be a key culprit in the development of ciliopathies, which can cause birth defects and are estimated to affect 1 in every 1,000 newborns. In an article published in the international journal Nature Genetics, researchers at the University of Texas in the United States revealed how mutations in these genes can prevent specific proteins from functioning and affecting the exchange of information between cells. Congenital defects caused by mutations in the cilia-related genes are diverse and result from oral-facial-finger syndromes that lead to an increase in the number of toes, tooth deformities, and tongue dysplasia