This Month in

Craniosynostosis is the premature fusion of the cranial sutures of the skull. In this issue, Twigg and Wilkie review the recent developments in the genetics of craniosynostosis and provide a framework for categorizing the genetic process that can lead to craniosynostosis when defective. In reviewing the genetic defects associated with craniosynostosis, it is notable that mutations causing complete loss of function are rare, and most cases are a result of haploinsufficiency, recessive hypomorphs, and gain-of-function mechanisms.

Source: The American Journal of Human Genetics - September 3, 2015 Category: Genetics & Stem Cells Authors: Sarah Ratzel, Sara B. Cullinan Tags: Editors’ Corner Source Type: research