After all known OI genes were excluded by gene panel analysis, whole-exome sequencing of the index patient (II.1) and both parents revealed two heterozygous variants c.10664delC p.(Pro3556Glnfs*136) and c.10240delA p.(Arg3414Glyfs*59) in the ZNF469 gene (Fig. 1a, b). This evidence concerns the gene ZNF469 and osteogenesis imperfecta.