cis-regulatory mutations are a genetic cause of human limb malformations

Dev Dyn. 2011 May;240(5):920-30. doi: 10.1002/dvdy.22535. Epub 2011 Jan 11.


The underlying mutations that cause human limb malformations are often difficult to determine, particularly for limb malformations that occur as isolated traits. Evidence from a variety of studies shows that cis-regulatory mutations, specifically in enhancers, can lead to some of these isolated limb malformations. Here, we provide a review of human limb malformations that have been shown to be caused by enhancer mutations and propose that cis-regulatory mutations will continue to be identified as the cause of additional human malformations as our understanding of regulatory sequences improves.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Gene Expression Regulation, Developmental / genetics
  • Gene Expression Regulation, Developmental / physiology
  • Humans
  • Limb Deformities, Congenital / genetics*
  • Mutation
  • Regulatory Sequences, Nucleic Acid / genetics*