ea0034p13 | Bone | SFEBES2014
Rogers Angela
, Nesbit M Andrew
, Hannan Fadil M
, Howles Sarah A
, Cranston Treena
, Allgrove Jeremy
, Bevan John S
, Bano Gul
, Brain Caroline
, Datta Vipan
, Hodgson Shirley V
, Izatt Louise
, Millar-Jones Lynne
, Pearce Simon H
, Robertson Lisa
, Selby Peter L
, Shine Brian
, Snape Katie
, Warner Justin
, Thakker Rajesh V
Familial hypocalciuric hypercalcaemia types 1, 2, and 3 (FHH1, FHH2, and FHH3) are caused by loss-of-function mutations of the calcium-sensing receptor (CaSR), G-protein subunit α11 (Gα11) and adaptor protein 2 sigma subunit (AP2σ), respectively; whilst autosomal dominant hypocalcaemia types 1 and 2 (ADH1 and ADH2) are due to gain-of-function mutations of CaSR and Gα11, respectively. We therefore hypothesised that gain-of-function AP2σ mutations may re...