Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2019 Sep;181(3):310-326.
doi: 10.1002/ajmg.c.31733. Epub 2019 Aug 1.

Gene ontology analysis of arthrogryposis (multiple congenital contractures)

Jeff Kiefer  1 , Judith G Hall  2   3
Affiliations

Gene ontology analysis of arthrogryposis (multiple congenital contractures)

Jeff Kiefer et al. Am J Med Genet C Semin Med Genet. 2019 Sep.

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.

Keywords: arthrogryposis; developmental pathways; enrichment analysis; gene ontology; multiple congenital contractures.

PubMed Disclaimer

References

REFERENCES

    1. Bayram, Y., Karaca, E., Coban Akdemir, Z., Yilmaz, E. O., Tayfun, G. A., Aydin, H., … Lupski, J. R. (2016). Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin. The Journal of Clinical Investigation, 126, 762-778.
    1. Bindea, G., Mlecnik, B., Hackl, H., Charoentong, P., Tosolini, M., Kirilovsky, A., … Galon, J. (2009). ClueGO: A Cytoscape plug-in to decipher functionally grouped gene ontology and pathway annotation networks. Bioinformatics, 25, 1091-1093. https://doi.org/10.1093/bioinformatics/btp101
    1. Croft, D., O'Kelly, G., Wu, G., Haw, R., Gillespie, M., Matthews, L., … Stein, L. (2011). Reactome: A database of reactions, pathways and biological processes. Nucleic Acids Research, 39, D691-D697. https://doi.org/10.1093/nar/gkq1018
    1. Giurgiu, M., Reinhard, J., Brauner, B., Dunger-Kaltenbach, I., Fobo, G., Frishman, G., Montrone, C., Ruepp, A., 2018. CORUM: The comprehensive resource of mammalian protein complexes-2019. Nucleic Acids Research 33, D364. doi:10.1093/nar/gky973
    1. Hall, J. G. (2009). Pena Shokeir phenotype (fetal akinesia deformation sequence) revisited. Birth Defects Research. Part A, Clinical and Molecular Teratology, 85, 677-694.

LinkOut - more resources