Western blot analysis of a fibroblast cell line derived from patient P1ATR confirmed a reduction in total ATR protein expression (Figure 1b), as previously observed in cell lines derived from other Seckel Syndrome patients (Mokrani-Benhelli et al., 2013; O’Driscoll et al., 2003; Ogi et al., 2012). The gene discussed is ATR; the disease is Seckel syndrome.