Gene ontology analysis of arthrogryposis (multiple congenital contractures)

被引：41

作者：

Kiefer, Jeff ^{[1
]}

Hall, Judith G. ^{[2
,3
,4
]}

机构：

[1] Syst Oncol, Scottsdale, AZ USA

[2] Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada

[3] BC Childrens Hosp, Vancouver, BC, Canada

[4] Univ British Columbia, Dept Pediat, Vancouver, BC, Canada

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS | 2019年 / 181卷 / 03期

关键词：

arthrogryposis; developmental pathways; enrichment analysis; gene ontology; multiple congenital contractures; ETIOLOGY;

D O I：

10.1002/ajmg.c.31733

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：310 / 326

页数：17

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