SOST and sclerosteosis: In humans, two rare autosomal recessive diseases have been described including sclerosteosis (OMIM #269500), which results from mutations in the coding region of the SOST gene, and van Buchem’s disease (OMIM #239100, also known as hyperostosis corticalis generalisata), caused by a mutation in the downstream enhancer region ECR5 (evolutionary conserved region 5) of the same gene [47,48,49].