Autosomal dominant hypocalcaemia due to a novel CASR mutation: clinical and genetic implications

Lucia Gagliardi, Morton G. Burt, Jinghua Feng, Nicola K. Poplawski, Hamish S. Scott

    Research output: Contribution to journalLetter

    1 Citation (Scopus)

    Abstract

    We report a patient from a family with autosomal dominant hypocalcaemia who also had prednisolone‐treated Langerhans’ cell histiocytosis and familial genetic studies identifying a novel calcium‐sensing receptor (CASR ) mutation. We describe an approach to define pathogenicity of a genetic variation of uncertain significance and postulate that bisphosphonates may have paradoxically increased fracture risk in our patient.
    Original languageEnglish
    Pages (from-to)495-497
    Number of pages3
    JournalClinical Endocrinology
    Volume85
    Issue number3
    DOIs
    Publication statusPublished - Sep 2016

    Keywords

    • genetic implications
    • clinical implications
    • clinical and genetic implications
    • Autosomal dominant hypocalcaemia
    • novel CASR mutation

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