Lessons from sclerosing bone dysplasias
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1Department of Medical Genetics, University of Antwerp, Antwerp, Belgium. wim.vanhul@ua.ac.be
Background:
Bone mineral density (BMD) is influenced by both genetic and environmental factors. The role of genetic factors in bone homeostasis is clearly illustrated by a group of genetic conditions associated with abnormal BMD. These conditions are often monogenic, caused by mutations in one gene.
Conclusions:
Major breakthroughs in understanding the molecular pathogenesis of these conditions will allow molecular evaluation of patients and provide useful tools for genetic counseling. Genetic studies also provide new insights into bone metabolism, identifying potential promising targets for therapeutic agents for osteoporosis and osteoporotic disorders.
