In van Buchem’s disease, there is a homozygous absence of ECR5 region, which has binding sites for the myocyte enhancer factor (Mef2c) transcription factor [28], suggesting that the binding of Mef2c to the ECR5 region of the SOST gene is important for SOST gene expression. This evidence concerns the gene SOST and hyperostosis corticalis generalisata.