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 journalArticle

1 Citation (Scopus)

Abstract

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
JournalBritish Journal of Clinical Pharmacology
Early online date24 Oct 2018
DOIs
Publication statusE-pub ahead of print - 24 Oct 2018

Fingerprint

Metabolic Bone Diseases
Genes
Mutation
Penetrance
Vitamin D
Signs and Symptoms
Physical Examination
Molecular Biology
Homeostasis
History

Keywords

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

Cite this

Hannan, Fadil M. ; Newey, Paul J. ; Whyte, Michael P. ; Thakker, Rajesh V. / Genetic Approaches to Metabolic Bone Diseases. In: British Journal of Clinical Pharmacology. 2018.
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Genetic Approaches to Metabolic Bone Diseases. / Hannan, Fadil M.; Newey, Paul J.; Whyte, Michael P.; Thakker, Rajesh V. (Lead / Corresponding author).

In: British Journal of Clinical Pharmacology, 24.10.2018.

Research output: Contribution to journalArticle

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