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Human Genetics of Sclerosing Bone Disorders

  • Genetics (M Johnson and S Ralston, Section Editors)
  • Published:
Current Osteoporosis Reports Aims and scope Submit manuscript

Abstract

Purpose of Review

The group of sclerosing bone disorders encompasses a variety of disorders all marked by increased bone mass. In this review, we give an overview of the genetic causes of this heterogeneous group of disorders and briefly touch upon the value of these findings for the development of novel therapeutic agents.

Recent Findings

Advances in the next-generation sequencing technologies are accelerating the molecular dissection of the pathogenic mechanisms underlying skeletal dysplasias.

Summary

Throughout the years, the genetic cause of these disorders has been extensively studied which resulted in the identification of a variety of disease-causing genes and pathways that are involved in bone formation by osteoblasts, bone resorption by osteoclasts, or both processes. Due to this rapidly increasing knowledge, the insights into the regulatory mechanisms of bone metabolism are continuously improving resulting in the identification of novel therapeutic targets for disorders with reduced bone mass and increased bone fragility.

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Funding

The research was supported by grants of the Fonds voor Wetenschappelijk Onderzoek Vlaanderen (FWO grant G019712N and G031915N) and the European Community’s Seventh Framework Programme (FP7/2007–2013) under grant agreement no. 602300 (SYBIL). EB holds a postdoctoral grant (12A3814N) with the Fonds voor Wetenschappelijk Onderzoek Vlaanderen. RDR holds a doctoral grant with the Fonds voor Wetenschappelijk Onderzoek Vlaanderen (1S07717N).

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  1. Raphaël De Ridder and Eveline Boudin contributed equally to this work.

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  1. Centre of Medical Genetics, University of Antwerp & University Hospital Antwerp, Antwerp, Belgium

    Raphaël De Ridder, Eveline Boudin, Geert Mortier & Wim Van Hul

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De Ridder, R., Boudin, E., Mortier, G. et al. Human Genetics of Sclerosing Bone Disorders. Curr Osteoporos Rep 16, 256–268 (2018). https://doi.org/10.1007/s11914-018-0439-7

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