title: cis-regulatory mutations are a genetic cause of human limb malformations.
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.
authors.affiliation: Department of Bioengineering and Therapeutic Sciences, and Institute for Human Genetics, University of California San Francisco, San Francisco, California, USA.
authors.forename: Julia E
authors.initials: JE
authors.lastname: VanderMeer
authors.forename: Nadav
authors.initials: N
authors.lastname: Ahituv
mesh_terms: D018507:Gene Expression Regulation, Developmental / Q000235:genetics / Q000502:physiology; D006801:Humans; D017880:Limb Deformities, Congenital / Q000235:genetics*; D009154:Mutation; D012045:Regulatory Sequences, Nucleic Acid / Q000235:genetics*