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.
- genetic implications
- clinical implications
- clinical and genetic implications
- Autosomal dominant hypocalcaemia
- novel CASR mutation
Gagliardi, L., Burt, M. G., Feng, J., Poplawski, N. K., & Scott, H. S. (2016). Autosomal dominant hypocalcaemia due to a novel CASR mutation: clinical and genetic implications. Clinical Endocrinology, 85(3), 495-497. https://doi.org/10.1111/cen.13104