Our case and the novel variant identified (c.112 + 1G > T) further support the pathogenic role of TMEM38B and emphasize the importance of including this gene in genetic testing for patients with suspected recessive forms of OI, especially those who test negative for classic collagen variants (COL1A1 and COL1A2). This evidence concerns the gene COL1A2 and osteogenesis imperfecta.