Copy Number Variants in Neurological Disease

October 10, 2014 | More reliable methods for detecting large copy number variants across the whole genome are helping to reveal the importance of these mutations in explaining neurological disorders. A recent study of 30,000 children with developmental delay and 15,000 controls, led by Evan Eichler at the University of Washington and published in Nature Genetics, found ten genes in which CNVs were highly enriched in affected individuals. Previously unknown CNVs in two of these genes, SETBP1 and ZMYND11, each united surprising groups of patients with very diverse symptoms, but a few key neurological and physiological features in common. Pacific Standard