Genetics of Skeletal Disorders

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

    Research output: Chapter in Book/Report/Conference proceedingChapter (peer-reviewed)peer-review

    5 Citations (Scopus)

    Abstract

    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 publicationBone Regulators and Osteoporosis Therapy
    EditorsPaula H. Stern
    Place of PublicationSwitzerland
    PublisherSpringer
    Pages325-351
    Number of pages27
    ISBN (Electronic)9783030573782
    ISBN (Print)9783030573775
    DOIs
    Publication statusPublished - 2020

    Publication series

    NameHandbook of Experimental Pharmacology
    Volume262
    ISSN (Print)0171-2004
    ISSN (Electronic)1865-0325

    Keywords

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

    ASJC Scopus subject areas

    • Biochemistry
    • Pharmacology, Toxicology and Pharmaceutics(all)

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