Given the small number of splice site mutations in malignant rhabdoid tumours reported to date (Biegel, 2006), it is interesting to note that our family and one other multigeneration family with RTPS (Taylor et al, 2000) demonstrate an INI1 mutation at a splice site, raising the possibility that carriers of such a mutation may be less likely to be affected. This evidence concerns the gene SMARCB1 and neoplasm.