Genetic Approaches to Metabolic Bone Diseases

Fadil M. Hannan, Paul J. Newey, Michael P. Whyte, Rajesh V. Thakker (Lead / Corresponding author)

Research output: Contribution to journalArticlepeer-review

20 Citations (Scopus)
87 Downloads (Pure)


Metabolic bone diseases comprise a diverse group of disorders characterized by alterations in skeletal homeostasis, and are often associated with abnormal circulating concentrations of calcium, phosphate or vitamin D metabolites. These diseases commonly have a genetic basis and represent either a monogenic disorder due to a germline or somatic single gene mutation, or an oligogenic or polygenic disorder that involves variants in more than one gene. Germline single gene mutations causing Mendelian diseases typically have a high penetrance, whereas the genetic variations causing oligogenic or polygenic disorders are each associated with smaller effects with additional contributions from environmental factors. Recognition of familial monogenic disorders is of clinical importance to facilitate timely investigations and management of the patient and any affected relatives. The diagnosis of monogenic metabolic bone disease requires careful clinical evaluation of the large diversity of symptoms and signs associated with these disorders. Thus, the clinician must pursue a systematic approach beginning with a detailed history and physical examination, followed by appropriate laboratory and skeletal imaging evaluations. Finally, the clinician must understand the increasing number and complexity of molecular genetic tests available to ensure their appropriate use and interpretation.

Original languageEnglish
Pages (from-to)1147-1160
Number of pages14
JournalBritish Journal of Clinical Pharmacology
Issue number6
Early online date24 Oct 2018
Publication statusPublished - 23 May 2019


  • genetic diseases
  • genetics and pharmacogenetics
  • molecular biology
  • osteoporosis
  • rheumatology

ASJC Scopus subject areas

  • Pharmacology
  • Pharmacology (medical)


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