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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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ea0034p15 | Bone | SFEBES2014

Identification of 12 adaptor protein-2 sigma 2 subunit mutations in familial hypocalciuric hypercalcaemia type 3 and expansion of phenotypic spectrum.

Rogers Angela , Hannan Fadil M , Howles Sarah A , Cranston Treena , Thakker Clare E , Bockenhauer Detlef , Brown Rosalind , Cook Jacqueline A , Darzy Ken , Ehtisham Sarah , Hulse Tony , Kumar Dhavendra , McKenna Malachi , McKnight John , Mughal Zulf , Pearce Simon H , Richardson Tristan , Scheers Isabelle , Wang Timothy , Nesbit M Andrew , Thakker Rajesh V

Familial hypocalciuric hypercalcaemia (FHH) is an autosomal dominant disorder characterized by hypercalcaemia and inappropriately low urinary calcium excretion, and is occasionally associated with acute pancreatitis. FHH can be classified into three types: FHH type 1, caused by loss-of-function mutations of the calcium-sensing receptor (CaSR), which accounts for >65% of cases; FHH type 2, due to loss-of-function mutations of the G-protein α 11 subunit (Gα11), of ...

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Endocrine Abstracts

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

Identification of 12 adaptor protein-2 sigma 2 subunit mutations in familial hypocalciuric hypercalcaemia type 3 and expansion of phenotypic spectrum.

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