Research Explained: Prevalence and architecture of de novo mutations in developmental disorders

Authors: Deciphering Developmental Disorders Study Group

Publication Date: January 25, 2017

Research Explained By: Brad Davidson, CSNK2A1 Foundation Science Communication Intern

Link to article: https://www.nature.com/articles/nature21062

Research Explained Summary:

This study collected genetic data from 8,361 individuals with neurodevelopmental disorders and sought to determine potential genes where mutations might lead to specific diseases, some previously described and others unknown. Because most individuals in this cohort were the only individuals in their family that had a neurodevelopmental disorder, genetic analyses of this cohort were powered to identify genes whose de novo mutation, or mutations not inherited from either parent, led to disease.

Through this analysis, 14 genes were identified as potentially disease causing through their de novo mutation. Among these genes was CSNK2A1, which we now know is causative of OCNDS. 7 individuals with mutations in this gene were identified within this cohort. At the time, OCNDS had only recently been discovered within a small 5 patient cohort – this study found OCNDS among a much larger cohort and further helped characterize the disease.