Genetic approaches to metabolic bone diseases

Hannan, Fadil M ORCID: 0000-0002-2975-5170, Newey, Paul J, Whyte, Michael P and Thakker, Rajesh V (2019) Genetic approaches to metabolic bone diseases. BRITISH JOURNAL OF CLINICAL PHARMACOLOGY, 85 (6). pp. 1147-1160.

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Official URL: http://dx.doi.org/10.1111/bcp.13803

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.

Item Type:	Article
Uncontrolled Keywords:	genetic diseases, genetics and pharmacogenetics, molecular biology, osteoporosis, rheumatology
Depositing User:	Symplectic Admin
Date Deposited:	03 Oct 2019 08:23
Last Modified:	19 Jan 2023 00:24
DOI:	10.1111/bcp.13803
Open Access URL:	https://doi.org/10.1111/bcp.13803
Related URLs:	Author Publisher
URI:	https://livrepository.liverpool.ac.uk/id/eprint/3056816