Gain-of-Function Mutations in Are Associated with Coronal Craniosynostosis and Learning Disability

We describe individuals from five families with heterozygous mutations located in the final (third) exon of ZIC1 (encoding four nonsense and one missense change) who have a distinct phenotype in which severe craniosynostosis, specifically involving the coronal sutures, and variable learning disability are the most characteristic features.

Source: The American Journal of Human Genetics - September 3, 2015 Category: Genetics & Stem Cells Authors: Stephen R.F. Twigg, Jennifer Forecki, Jacqueline A.C. Goos, Ivy C.A. Richardson, A. Jeannette M. Hoogeboom, Ans M.W. van den Ouweland, Sigrid M.A. Swagemakers, Maarten H. Lequin, Daniel Van Antwerp, Simon J. McGowan, Isabelle Westbury, Kerry  Tags: Article Source Type: research