The p.R1036Q has been described in other studies [31,32,33] that detected this variant in patients with OPPG [32] and juvenile osteoporosis [31,32] and observed a decreased 5-Htr1b expression and the ability of LRP5 to modulate the Wnt-induced signaling pathway compared to wild-type, although functional results were not statistically significant [33]. This evidence concerns the gene LRP5 and osteoporosis-pseudoglioma syndrome.