PLOD2 and Bloom syndrome: Mutation c.1880T>C of PLOD2 causes the substitution of valine by alanine at position 627, which is close to previously identified variants of p.Arg619His(c.1856G>A), p.Gly622Cys(c.1864G>T), p.Gly622Val(c.1865G>T) and p.Thr629Ile(c.1886C>T) in patients with BS (Figure 4D) [5], [7], [25].