Novel compound heterozygous mutations c.764_772dupACGTCCTCC (p.255_257dupHisValLeu) and c.1405G>T (p.Gly469X) in FKBP10, c.1624delT (p.Tyr542Thrfs*18) and c.1880T>C (p.Val627Ala) in PLOD2 are the new genetic mechanisms of BS. Here, PLOD2 is linked to Bloom syndrome.