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

doi:10.1159/000446663

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

Istituto "Giannina Gaslini"

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
DOIs	https://doi.org/10.1159/000446663
Publication status	Accepted/In press - Jul 9 2016

Keywords

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

ASJC Scopus subject areas

Physiology
Nephrology
Urology
Physiology (medical)

Access to Document

10.1159/000446663

Cite this

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. (Accepted/In press). Mutational Spectrum of CYP24A1 Gene in a Cohort of Italian Patients with Idiopathic Infantile Hypercalcemia. Nephron, 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, pp. 193-204. https://doi.org/10.1159/000446663

@article{87c9f89fc65e4261ad87131153b95882,

title = "Mutational Spectrum of CYP24A1 Gene in a Cohort of Italian Patients with Idiopathic Infantile Hypercalcemia",

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 ",

keywords = "<italic>CYP24A1</italic>, Hypercalcemia, Mutation, Nephrocalcinosis, Nephrolithiasis, PTH",

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

year = "2016",

month = jul,

day = "9",

doi = "10.1159/000446663",

language = "English",

pages = "193--204",

journal = "Experimental Nephrology",

issn = "0028-2766",

publisher = "S. Karger AG",

}

TY - JOUR

T1 - Mutational Spectrum of CYP24A1 Gene in a Cohort of Italian Patients with Idiopathic Infantile Hypercalcemia

AU - Gigante, Maddalena

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, Mario

AU - Gesualdo, Loreto

PY - 2016/7/9

Y1 - 2016/7/9

N2 - 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

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

KW - <italic>CYP24A1</italic>

KW - Hypercalcemia

KW - Mutation

KW - Nephrocalcinosis

KW - Nephrolithiasis

KW - PTH

UR - http://www.scopus.com/inward/record.url?scp=84978481279&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84978481279&partnerID=8YFLogxK

U2 - 10.1159/000446663

DO - 10.1159/000446663

M3 - Article

AN - SCOPUS:84978481279

SP - 193

EP - 204

JO - Experimental Nephrology

JF - Experimental Nephrology

SN - 0028-2766

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this