SHQ1 and cerebellar degeneration: 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).