Autosomal dominant hypocalcemia due to a truncation in the C-tail of the calcium-sensing receptor

Katia Maruca, Ilaria Brambilla, Alessandra Mingione, Lorenzo Bassi, Silvia Capelli, Caterina Brasacchio, Laura Soldati, Mariangela Cisternino, Stefano Mora

Research output: Contribution to journalArticlepeer-review


Autosomal Dominant Hypocalcemia (ADH) is an endocrine disorder due to activating mutations of the calcium-sensing receptor (CASR) gene. We report on a young boy who presented low serum calcium with hypercalciuria, hyperphosphatemia and low serum concentration of parathyroid hormone, not accompanied by classic clinical signs of hypocalcemia. Treatment with calcitriol and calcium did not normalize serum calcium and renal calcium excretion. The use of thiazide diuretics slightly reduced calciuria. Despite high calcium excretion, no signs of nephrocalcinosis were detected. The patient had a prolonged Q-T interval at ECG, which did not normalize during treatment. PCR amplification of CASR coding sequence and direct sequencing of PCR products. showed a novel heterozygous deletion of a cytosine (c.2682delC), responsible for a frameshift (p.S895Pfs*44) and a premature stop codon resulting in a truncation of the CaSR's C-tail. Functional studies indicated increased activity of mutant receptor compared to the wild-type.

Original languageEnglish
Pages (from-to)187-193
Number of pages7
JournalMolecular and Cellular Endocrinology
Publication statusPublished - Jan 5 2017


  • Activating mutation
  • Autosomal dominant hypocalcemia
  • Calcium-sensing receptor
  • Deletion
  • Mutational analysis

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Endocrinology


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