The nine variants associated with an elevated PCa risk segregated in as few as three and as many as nine of the 75 WES families (Table 3), with six present in five or more families (CHAD p.Ala342Asp, D2HGDH p.Ala225Thr, EPHA8 p.Pro607His, HOXB13 p.Gly84Glu, OR5H14 p.Met59Val and SWSAP1 p.Leu118Ile). The gene discussed is SWSAP1; the disease is posterior cortical atrophy.