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Genetics of the patella.

Mark E Samuels1,2, Philippe M Campeau3

  • 1Département de médicine, Université de Montréal, Montreal, Canada. mark.e.samuels@umontreal.ca.

European Journal of Human Genetics : EJHG
|January 22, 2019
PubMed
Summary

Genetic diseases affecting patellar development are reviewed. Understanding the genetic basis of patellar anomalies aids in diagnosing limb development disorders.

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Area of Science:

  • Genetics and Developmental Biology
  • Molecular Medicine

Background:

  • Patellar anomalies (hypoplasia or aplasia) are significant features of various genetic diseases.
  • The molecular bases of these conditions involve genes critical for limb specification, DNA replication, and bone development.

Purpose of the Study:

  • To review genetic diseases with patellar anomalies.
  • To organize causal genes by developmental processes.
  • To highlight the role of environmental factors in patellar development.

Main Methods:

  • Literature review of genetic diseases with identified molecular bases and patellar phenotypes.
  • Categorization of causal genes based on their roles in limb development, DNA replication, and bone differentiation.
  • Inclusion of data from developmental studies in animal models and human disease observations.

Main Results:

  • Causal genes for patellar anomalies fall into three main categories: limb specification/pattern formation, DNA replication/chromatin structure, and bone development/differentiation.
  • Some genes influence multiple developmental processes.
  • Mouse models reveal genes relevant to patellar development without reported human syndromes.
  • Environmental factors are crucial for normal patellar development (ontogenesis).

Conclusions:

  • Patellar anomalies can serve as key indicators for clinical genetic diagnoses.
  • Enhanced understanding of the genetics of patellar anomalies will advance knowledge of limb development.
  • Further research into gene-environment interactions is warranted.