Craniofacial disorders caused by mutations in homeobox genes MSX1 and MSX2

J Craniofac Genet Dev Biol. 2000 Jan-Mar;20(1):19-25.

Abstract

The molecular biology of the homeobox genes MSX1 and MSX2 is reviewed. In a selective type of tooth agenesis, an MSX1 G --> C transversion results in a missense mutation Arg31Pro. The phenotype is due to haploinsufficiency. Boston-type craniosynostosis involves an MSX2 C --> A transversion, resulting in a missense mutation Pro7His. Three different mutations on MSX2 cause parietal foramina by haploinsufficiency. These mutations, which result in decreased parietal ossification, are in marked contrast to the gain-of-function mutation for Boston-type craniosynostosis, which results in increased sutural ossification.

Publication types

  • Review

MeSH terms

  • Animals
  • Anodontia / genetics
  • Craniofacial Abnormalities / genetics*
  • Craniosynostoses / genetics
  • DNA / chemistry
  • DNA / metabolism
  • DNA Mutational Analysis
  • DNA-Binding Proteins / genetics*
  • Down-Regulation
  • Homeodomain Proteins / genetics*
  • Humans
  • MSX1 Transcription Factor
  • Mice
  • Models, Biological
  • Models, Genetic
  • Mutation, Missense
  • Tooth / growth & development
  • Tooth / physiology*
  • Transcription Factors*

Substances

  • DNA-Binding Proteins
  • Homeodomain Proteins
  • MSX1 Transcription Factor
  • MSX2 protein
  • Transcription Factors
  • DNA