According to the Uniprot database, the RECQL4 frameshift mutation c.2636del we here describe is not expected to affect the known functional domains of the protein, but more downstream (C-terminal) mutations in RECQL4 have been shown to cause RTS or GBS [55] and the C-terminal seems to be necessary for RECQL4 nucleolar localization through interaction with PARP-1 [60], therefore making very likely its deleterious nature. Here, RECQL4 is linked to Rothmund-Thomson syndrome.