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

M. 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, M. Giordano, L. Gesualdo

Research output: Contribution to journalArticle

Abstract

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
JournalNephron
Volume133
Issue number3
DOIs
Publication statusPublished - 2016

Fingerprint

Nephrocalcinosis
Hypercalcemia
Genes
Hypercalciuria
Nephrolithiasis
Mutation
Pediatrics
Infantile Hypercalcemia
Vitamin D3 24-Hydroxylase
Population
1,25-dihydroxyvitamin D

Keywords

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

ASJC Scopus subject areas

  • Physiology
  • Nephrology
  • Urology
  • Physiology (medical)

Cite this

Gigante, M., Santangelo, L., Diella, S., Caridi, G., Argentiero, L., D'Alessandro, M. M., ... Gesualdo, L. (2016). Mutational Spectrum of CYP24A1 Gene in a Cohort of Italian Patients with Idiopathic Infantile Hypercalcemia. Nephron, 133(3), 193-204. https://doi.org/10.1159/000446663

Mutational Spectrum of CYP24A1 Gene in a Cohort of Italian Patients with Idiopathic Infantile Hypercalcemia. / Gigante, M.; Santangelo, Luisa; Diella, Sterpeta; Caridi, Gianluca; Argentiero, Lucia; D'Alessandro, Maria Michela; Martino, Marida; Stea, Emma Diletta; Ardissino, Gianluigi; Carbone, Vincenza; Pepe, Silvana; Scrutinio, Domenico; Maringhini, Silvio; Ghiggeri, Gian Marco; Grandaliano, Giuseppe; Giordano, M.; Gesualdo, L.

In: Nephron, Vol. 133, No. 3, 2016, p. 193-204.

Research output: Contribution to journalArticle

Gigante, M, Santangelo, L, Diella, S, Caridi, G, Argentiero, L, D'Alessandro, MM, Martino, M, Stea, ED, Ardissino, G, Carbone, V, Pepe, S, Scrutinio, D, Maringhini, S, Ghiggeri, GM, Grandaliano, G, Giordano, M & Gesualdo, L 2016, 'Mutational Spectrum of CYP24A1 Gene in a Cohort of Italian Patients with Idiopathic Infantile Hypercalcemia', Nephron, vol. 133, no. 3, pp. 193-204. https://doi.org/10.1159/000446663
Gigante, M. ; Santangelo, Luisa ; Diella, Sterpeta ; Caridi, Gianluca ; Argentiero, Lucia ; D'Alessandro, Maria Michela ; Martino, Marida ; Stea, Emma Diletta ; Ardissino, Gianluigi ; Carbone, Vincenza ; Pepe, Silvana ; Scrutinio, Domenico ; Maringhini, Silvio ; Ghiggeri, Gian Marco ; Grandaliano, Giuseppe ; Giordano, M. ; Gesualdo, L. / Mutational Spectrum of CYP24A1 Gene in a Cohort of Italian Patients with Idiopathic Infantile Hypercalcemia. In: Nephron. 2016 ; Vol. 133, No. 3. pp. 193-204.
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