关节挛缩症（多发性先天性挛缩）的基因本体论分析。

Gene ontology analysis of arthrogryposis (multiple congenital contractures).

机构信息

Systems Oncology, Scottsdale, Arizona.

Department of Medical Genetics, University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada.

出版信息

Am J Med Genet C Semin Med Genet. 2019 Sep;181(3):310-326. doi: 10.1002/ajmg.c.31733. Epub 2019 Aug 1.

DOI:10.1002/ajmg.c.31733

PMID:31369690

Abstract

In 2016, we published an article applying Gene Ontology Analysis to the genes that had been reported to be associated with arthrogryposis (multiple congenital contractures) (Hall & Kiefer, 2016). At that time, 320 genes had been reported to have mutations associated with arthrogryposis. All were associated with decreased fetal movement. These 320 genes were analyzed by biological process and cellular component categories, and yielded 22 distinct groupings. Since that time, another 82 additional genes have been reported, now totaling 402 genes, which when mutated, are associated with arthrogryposis (arthrogryposis multiplex congenita). So, we decided to update the analysis in order to stimulate further research and possible treatment. Now, 29 groupings can be identified, but only 19 groups have more than one gene.

摘要

2016 年，我们发表了一篇文章，应用基因本体论分析了与多发性先天性挛缩症（关节挛缩症）相关的已报道基因（Hall & Kiefer, 2016）。当时，已有 320 个基因被报道与关节挛缩症相关的突变。所有这些基因都与胎儿运动减少有关。我们对这 320 个基因进行了生物学过程和细胞成分分类分析，得出了 22 个不同的分组。此后，又有 82 个额外的基因被报道，现在总共 402 个基因，如果发生突变，与关节挛缩症（多发性先天性挛缩症）相关。因此，我们决定更新分析结果，以激发进一步的研究和可能的治疗方法。现在，可以识别出 29 个分组，但只有 19 个分组有一个以上的基因。