Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems

Anneke T. Vulto-van Silfhout, Shivakumar Rajamanickam, Philip J. Jensik, Sarah Vergult, Nina de Rocker, Kathryn J. Newhall, Ramya Raghavan, Sara N. Reardon, Kelsey Jarrett, Tara McIntyre, Joseph Bulinski, Stacy L. Ownby (+24 others)
2015 American Journal of Human Genetics  
In this article, the authors reported on four individuals with intellectual disability, severely affected speech development, behavioral problems, and missense mutations affecting the SAND domain of DEAF1. Functional studies showing a loss of function of DEAF1 and behavioral studies in a conditional knockout mouse provided additional support for causality of the DEAF1 mutations in these four reported individuals.
doi:10.1016/j.ajhg.2014.12.019 fatcat:ywftfik6yvakdgrrjsykwhvwk4