Genetics of the patella.

Authors:
Dr. Philippe M Campeau, MD, FCCMG
Dr. Philippe M Campeau, MD, FCCMG
University of Montreal
Canada

Eur J Hum Genet 2019 May 21;27(5):671-680. Epub 2019 Jan 21.

Department of Pediatrics, Centre de Recherche du CHU Ste-Justine, Montreal, Canada.

We review genetic diseases with identified molecular bases that include abnormal, reduced (hypoplasia), or absent (aplasia) patellae as a significant aspect of the phenotype. The known causal genes can be broadly organized according to three major developmental and cellular processes, although some genes may act in more than one of these: limb specification and pattern formation; DNA replication and chromatin structure; bone development and differentiation. There are also several genes whose phenotypes in mice indicate relevance to patellar development, for which human equivalent syndromes have not been reported. Developmental studies in mouse and chick embryos, as well as patellar involvement in human diseases with decreased mobility, document the additional importance of local environmental factors in patellar ontogenesis. Patellar anomalies found in humans can be an important clue to a clinical genetic diagnosis, and a better knowledge of the genetics of patellar anomalies will improve our understanding of limb development.

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Source
http://www.nature.com/articles/s41431-018-0329-6
Publisher Site
http://dx.doi.org/10.1038/s41431-018-0329-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6461774PMC
May 2019
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