In our patients, compound heterozygous mutations of c.764_772dupACGTCCTCC in exon 5 and c.1405G>T in exon 9 of FKBP10, and c.1624delT in exon 14 and c.1880T>C in exon 17 of PLOD2 are all novel mutations of causative gene of BS. The gene discussed is PLOD2; the disease is Bloom syndrome.