Current Osteoporosis Reports

, Volume 16, Issue 3, pp 256–268 | Cite as

Human Genetics of Sclerosing Bone Disorders

  • Raphaël De Ridder
  • Eveline Boudin
  • Geert Mortier
  • Wim Van Hul
Genetics (M Johnson and S Ralston, Section Editors)
Part of the following topical collections:
  1. Topical Collection on Genetics


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.


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.


Sclerosing bone disorders Osteopetrosis Paget’s disease of bone Craniotubular hyperostosis 


Funding Information

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).

Compliance with Ethical Standards

Conflict of Interest

Raphaël De Ridder, Eveline Boudin, Geert Mortier, and Wim Van Hul declare no conflict of interest.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  • Raphaël De Ridder
    • 1
  • Eveline Boudin
    • 1
  • Geert Mortier
    • 1
  • Wim Van Hul
    • 1
  1. 1.Centre of Medical GeneticsUniversity of Antwerp & University Hospital AntwerpAntwerpBelgium

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