Following his clinical diagnosis of moderately severe OI, molecular screening using an NGS OI sequencing panel identified the proband as homozygous for a TMEM38B c.507G>A point mutation, predicted to introduce a PTC in exon 4 (p.W169X) (Fig 1G), and identical to that recently reported by Lv, et al [23]. The gene discussed is TMEM38B; the disease is osteogenesis imperfecta.