This mutation was detected in 2003 by Van Wesenbeeck et al. when examining individuals described elsewhere in previous publications, i.e., in one family from the US [41], one family from Italy [24], and one family from France in which the proband was diagnosed with “autosomal dominant osteopetrosis, type 1,” even though this was a mislabeling for LRP5 HBM as the described clinical and radiological findings were not typical for osteopetrosis. This evidence concerns the gene LRP5 and osteopetrosis.