Moreover, protein-truncating variants in SORL1 were observed exclusively in AD patients, and are highly penetrant, whereas two SORL1 missense mutations (p.R1303C and p.G1732A) and a splice site variant (c.3050-2A > G) have been shown to segregate with disease in families affected by autosomal dominant AD (Holstege et al., 2017). This evidence concerns the gene SORL1 and Alzheimer disease.