Rare, protein-modifying variants found to be homozygous or potentially compound heterozygous were prioritized (Figure 3), revealing an X-linked functional polymorphism c.937G > T (p.D313Y) in GLA that is not considered pathogenic [8] and a homozygous c.1672C > T (p.R558C) missense mutation in exon 8 of WFS1 that has previously been reported in a patient with Wolfram syndrome [9]. The gene discussed is WFS1; the disease is Wolfram syndrome.