Calcium-sensing-related gene mutations in hypercalcaemic hypocalciuric patients as differential diagnosis from primary hyperparathyroidism: detection of two novel inactivating mutations in an Italian population.

doi:10.1093/ndt/gfu065

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Article

Calcium-sensing-related gene mutations in hypercalcaemic hypocalciuric patients as differential diagnosis from primary hyperparathyroidism: detection of two novel inactivating mutations in an Italian population.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Oct 2014

Stratta Piero, Merlotti Guido, Musetti Claudio, Quaglia Marco, Pagani Alessia, Izzo Cristina, Radin Elisabetta, Airoldi Andrea, Baorda Filomena, Palladino Teresa, Leone Maria Pia, Guarnieri Vito

Abstract excerpt

BACKGROUND: Inactivating mutations of the calcium-sensing receptor (CaSR), of the G-protein subunit α11 (GNA11) and of the adaptor-related protein complex 2, sigma 1 subunit (AP2S1) genes are responsible for familial hypocalciuric hypercalcaemia (FHH). The aim of this study was to analyse prevalence and pathogenicity of CaSR, GNA11 and AP2S1 mutations in patients with an FHH phenotype and to compare them with a...

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PMID: 25104082
DOI: 10.1093/ndt/gfu065

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GNA11

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