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

doi:10.1159/000446663

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 journal › Article › peer-review

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 language	English
Pages (from-to)	193-204
Number of pages	12
Journal	Nephron
Volume	133
Issue number	3
DOIs	https://doi.org/10.1159/000446663
Publication status	Published - 2016

Keywords

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

ASJC Scopus subject areas

Physiology
Nephrology
Urology
Physiology (medical)

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10.1159/000446663

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Gigante, M., Santangelo, L., Diella, S., Caridi, G., Argentiero, L., D'Alessandro, M. M., Martino, M., Stea, E. D., Ardissino, G., Carbone, V., Pepe, S., Scrutinio, D., Maringhini, S., Ghiggeri, G. M., Grandaliano, G., Giordano, 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

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

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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 ",

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AU - Santangelo, Luisa

AU - Diella, Sterpeta

AU - Caridi, Gianluca

AU - Argentiero, Lucia

AU - D'Alessandro, Maria Michela

AU - Martino, Marida

AU - Stea, Emma Diletta

AU - Ardissino, Gianluigi

AU - Carbone, Vincenza

AU - Pepe, Silvana

AU - Scrutinio, Domenico

AU - Maringhini, Silvio

AU - Ghiggeri, Gian Marco

AU - Grandaliano, Giuseppe

AU - Giordano, M.

AU - Gesualdo, L.

PY - 2016

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AB - 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

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

Abstract

Keywords

ASJC Scopus subject areas

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