THAP11 and nervous system disorder: Despite having relatively short pure CAG tracts, the larger repeat sizes being enriched in intellectual disability and neurological disease cases could be due to the disruption of a pathway that is different to that described in Tan et al.3 Indeed, Quintana et al. reported an association of THAP11 mutants with developmental disorders by disrupting cobalamin metabolism, despite the fact that the concerned mutations are in different parts of the gene.11