NPC displays an autosomal recessive mode of inheritance, with approximately 95% of cases caused by mutations in the NPC1 gene (Carstea et al., 1997; Greer et al., 1998) and the remaining cases caused by mutations in NPC2 (Krull et al., 1993; Naureckiene et al., 2000). Here, NPC1 is linked to nasopharyngeal carcinoma.