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ea0034p13 | Bone | SFEBES2014

Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcaemia type 3 (ADH3)

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...

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Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcaemia type 3 (ADH3)

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