Among those tested, the mutations found include five cases with PTNP11-mutations associated with Noonan syndrome with lentigenosis, one case of RAF 1-mutation, one case of a ALPK3-mutation homozygote, and one with compound heterozygosity for ALPK3-mutations, both the latter ones had multiple dysmorphic features typical of Noonan syndrome. Here, ALPK3 is linked to Noonan syndrome.