Whole exome sequencing identifies a splicing mutation in <i>NSUN2</i> as a cause of a Dubowitz-like syndrome

Abstract

Our findings establish NSUN2 as the first causal gene with relationship to the DS spectrum phenotype. NSUN2 has been implicated in Myc-induced cell proliferation and mitotic spindle stability, which might help explain the varied clinical presentation in DS that can include chromosomal instability and immunological defects.