RD is far more severe than HGPS, being fatal at or before birth, and is due to complete loss of ZMPSTE24 function resulting from null mutations (frameshifts, premature termination or large deletions) in both copies of ZMPSTE24 (Moulson et al., 2005; Navarro et al., 2005, 2014; Smigiel et al., 2010). Here, ZMPSTE24 is linked to Hutchinson-Gilford progeria syndrome.