Although we did not find a pathogenic mutation for these cases, we did detect a VUS (variant of unknown significance) for patient F10774-1 (NM_001235.3:c.580C > A:p.R194S) located at SERPINH1, a gene already associated with a recessive form of OI (Bonafe et al., 2015). This evidence concerns the gene SERPINH1 and osteogenesis imperfecta.