SOX10 and Waardenburg syndrome: Mutations in SOX10 have been implicated in uvealmelanoma and Waardenburg syndrome, which presents with pigmentation abnormalitiesand hearing loss, and Kallmann syndrome, which presents with failure to start orcomplete puberty and hypogonadotropic hypogonadism (short stature, absence ofpuberty and sex hormones, among others) and absence of smell59, 60.The phenotype similarity of these syndromes and the association signature maysuggest that SOX10 could be driving the associations observed for thePLA2G6 locus.