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Keywords:

  • cis-regulatory;
  • enhancer;
  • human limb malformation

Abstract

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. Developmental Dynamics 240:920–930, 2011. © 2011 Wiley-Liss, Inc.