Mutational Spectrum of CYP24A1 Gene in a Cohort of Italian Patients with Idiopathic Infantile Hypercalcemia

Maddalena Gigante, Luisa Santangelo, Sterpeta Diella, Gianluca Caridi, Lucia Argentiero, Maria Michela D'Alessandro, Marida Martino, Emma Diletta Stea, Gianluigi Ardissino, Vincenza Carbone, Silvana Pepe, Domenico Scrutinio, Silvio Maringhini, Gian Marco Ghiggeri, Giuseppe Grandaliano, Mario Giordano, Loreto Gesualdo

Research output: Contribution to journalArticlepeer-review


Background/Aims: Loss-of-function mutations in the CYP24A1 gene, which encodes the vitamin D-24 hydroxylase, have been recognized as a cause of elevated 1,25-dihydroxyvitamin D concentrations, hypercalcemia, hypercalciuria, nephrocalcinosis and nephrolithiasis in infants and adults. As only a case report describing 2 adult patients has been reported in Italian population, we report here the mutation analysis of CYP24A1 gene in an Italian cohort of 12 pediatric and adult patients with idiopathic infantile hypercalcemia (IIH). Methods: We performed mutational screening of CYP24A1 gene in a cohort of 12 Italian patients: 8 children with nephrocalcinosis, hypercalcemia and PTH levels

Original languageEnglish
Pages (from-to)193-204
Number of pages12
Publication statusAccepted/In press - Jul 9 2016


  • <italic>CYP24A1</italic>
  • Hypercalcemia
  • Mutation
  • Nephrocalcinosis
  • Nephrolithiasis
  • PTH

ASJC Scopus subject areas

  • Physiology
  • Nephrology
  • Urology
  • Physiology (medical)


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