A previous report also described SHQ1compound heterozygous variants in a child with severe neurological disorder including cerebellar degeneration; this individual carried variants c.1003C>T (p.R335C) and c.1277C>T (p.A426V) (Figure 1A), and pulldown assays with recombinant proteins revealed that each mutation reduced binding of SHQ1 to dyskerin (Bizarro and Meier, 2017). This evidence concerns the gene SHQ1 and nervous system disorder.