De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies

Using exome sequencing, we have identified de novo variants in MAPK8IP3 in 13 unrelated individuals presenting with an overlapping phenotype of mild to severe intellectual disability. The de novo variants comprise six missense variants, three of which are recurrent, and three truncating variants. Brain anomalies such as perisylvian polymicrogyria, cerebral or cerebellar atrophy, and hypoplasia of the corpus callosum were consistent among individuals harboring recurrent de novo missense variants.

Source: The American Journal of Human Genetics - January 3, 2019 Category: Genetics & Stem Cells Authors: Konrad Platzer, Heinrich Sticht, Stacey L. Edwards, William Allen, Kaitlin M. Angione, Maria T. Bonati, Campbell Brasington, Megan T. Cho, Laurie A. Demmer, Tzipora Falik-Zaccai, Candace N. Gamble, Yorck Hellenbroich, Maria Iascone, Fernando Kok, Sonal Ma Tags: Article Source Type: research