Genetics of Skeletal Disorders

Fadil M. Hannan, Paul J. Newey, Michael P. Whyte, Rajesh V. Thakker

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

4 Scopus citations


Bone and mineral diseases encompass a variety of conditions that involve altered skeletal homeostasis and are frequently associated with changes in circulating calcium, phosphate, or vitamin D metabolites. These disorders often have a genetic etiology and comprise monogenic disorders caused by a single-gene mutation, which may be germline or somatic, or an oligogenic or polygenic condition involving multiple genetic variants. Single-gene mutations causing Mendelian diseases are usually highly penetrant, whereas the gene variants contributing to oligogenic or polygenic disorders are each associated with smaller effects with additional contributions from environmental factors. The detection of monogenic disorders is clinically important and facilitates timely assessment and management of the patient and their affected relatives. The diagnosis of monogenic metabolic bone disorders requires detailed clinical assessment of the wide variety of symptoms and signs associated with these diseases. Thus, clinicians should undertake a systematic approach commencing with careful history taking and physical examination, followed by appropriate laboratory and skeletal imaging investigations. Finally, clinicians should be familiar with the range of molecular genetic tests available to ensure their appropriate use and interpretation. These considerations are reviewed in this chapter.

Original languageEnglish
Title of host publicationHandbook of Experimental Pharmacology
PublisherSpringer Science and Business Media Deutschland GmbH
Number of pages27
StatePublished - 2020

Publication series

NameHandbook of Experimental Pharmacology
ISSN (Print)0171-2004
ISSN (Electronic)1865-0325


  • Bone
  • Genetic
  • Next-generation sequencing
  • Osteoporosis
  • Variant


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