TY - JOUR
T1 - Autosomal dominant hypocalcaemia due to a novel CASR mutation
T2 - clinical and genetic implications
AU - Gagliardi, Lucia
AU - Burt, Morton G.
AU - Feng, Jinghua
AU - Poplawski, Nicola K.
AU - Scott, Hamish S.
PY - 2016/9
Y1 - 2016/9
N2 - 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.
AB - 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.
KW - genetic implications
KW - clinical implications
KW - clinical and genetic implications
KW - Autosomal dominant hypocalcaemia
KW - novel CASR mutation
UR - http://www.scopus.com/inward/record.url?scp=84982084105&partnerID=8YFLogxK
UR - http://purl.org/au-research/grants/NHMRC/1023059
U2 - 10.1111/cen.13104
DO - 10.1111/cen.13104
M3 - Letter
C2 - 27177819
AN - SCOPUS:84982084105
SN - 0300-0664
VL - 85
SP - 495
EP - 497
JO - Clinical Endocrinology
JF - Clinical Endocrinology
IS - 3
ER -