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ea0034p14 | Bone | SFEBES2014

Clinical studies of adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 reveal genotype–phenotype correlations and effectiveness of cinacalcet

Hannan Fadil , Rogers Angela , Howles Sarah , Cranston Treena , McKenna Malachi , Richardson Tristan , Babinsky Valerie , Reed Anita , Thakker Clare , Bockenhauer Detlef , Brown Rosalind , Cook Jacqueline , Darzy Ken , Ehtisham Sarah , Graham Una , Hulse Tony , Hunter Steven , Kumar Dhavendra , McKnight John , Morrison Patrick , Mughal Zulf , Pearce Simon , Scheers Isabelle , Wang Timothy , Whyte Michael , Nesbit M Andrew , Thakker Rajesh

Familial hypocalciuric hypercalcaemia (FHH) comprises three types: FHH1, FHH2, and FHH3, which are due to mutations of the calcium-sensing receptor (CaSR), G-protein α 11 subunit (Gα11), and adaptor protein-2 sigma subunit (AP2σ), respectively. The aims of this study were: to assess for genotypephenotype correlations among the three reported FHH3-causing AP2σ mutations, which all involve the Arg15 residue, and comprise Arg15Cys, Arg15His, and Arg15Leu...

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Clinical studies of adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 reveal genotype–phenotype correlations and effectiveness of cinacalcet

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