Variants in a small RNA gene cause a rare disorder

On page 832, Chen etai? and in a paper in Nature Medicine3, two independent teams discover that variants in a gene called RNU4-2 are among the most frequent causes of developmental disorders. [...]exome sequencing is more cost-effective than whole-genome sequencing and has been the main workhorse of clinical genetics for about a decade. [...]the discovery of a remarkably high number of previously undiagnosed individuals with disease-causing variants in a non-protein-coding gene could make a strong case for this to change.