Molecular mechanisms of midfacial developmental defects

Dev Dyn. 2016 Mar;245(3):276-93. doi: 10.1002/dvdy.24368. Epub 2015 Dec 11.

Abstract

The morphogenesis of midfacial processes requires the coordination of a variety of cellular functions of both mesenchymal and epithelial cells to develop complex structures. Any failure or delay in midfacial development as well as any abnormal fusion of the medial and lateral nasal and maxillary prominences will result in developmental defects in the midface with a varying degree of severity, including cleft, hypoplasia, and midline expansion. Despite the advances in human genome sequencing technology, the causes of nearly 70% of all birth defects, which include midfacial development defects, remain unknown. Recent studies in animal models have highlighted the importance of specific signaling cascades and genetic-environmental interactions in the development of the midfacial region. This review will summarize the current understanding of the morphogenetic processes and molecular mechanisms underlying midfacial birth defects based on mouse models with midfacial developmental abnormalities.

Keywords: cell signaling; growth factor; midfacial cleft; midfacial development; neural crest cells.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Cleft Palate / embryology*
  • Cleft Palate / genetics
  • Cleft Palate / pathology
  • Disease Models, Animal
  • Gene-Environment Interaction*
  • Genome, Human*
  • Humans
  • Maxilla / embryology*
  • Maxilla / pathology
  • Mice
  • Nose / embryology*
  • Nose / pathology
  • Signal Transduction*