It is still under debate whether variants in PHOX2B play a role in SIDS.26,27 We could not detect the classical CCHS-causing PHOX2B polyalanine repeat in our SIDS cohort, but in one SIDS case we found a sequence variant (A118V) in the PHOX2B gene, which was not previously reported in the literature or in public databases. Here, PHOX2B is linked to sudden infant death syndrome.