Duplex high resolution melting analysis (dHRMA) to detect two hot spot CYP24A1 pathogenic variants (PVs) associated to idiopathic infantile hypercalcemia (IIH)

Pathogenic variants (PVs) in CYP24A1 gene are associated with Idiopathic Infantile Hypercalcemia disease (IIH). The identification of CYP24A1 PVs can be a useful tool for the improvement of target therapeutic strategies. Aim of this study is to set up a rapid and inexpensive High Resolution Melting...

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Autores principales: De Bonis, Maria, De Paolis, Elisa, Onori, Maria Elisabetta, Mazzuccato, Giorgia, Gatto, Antonio, Ferrara, Pietro, Ferraro, Pietro Manuel, Urbani, Andrea, Minucci, Angelo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2021
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Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8172411/
https://www.ncbi.nlm.nih.gov/pubmed/33864587
http://dx.doi.org/10.1007/s11033-021-06324-x
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author De Bonis, Maria
De Paolis, Elisa
Onori, Maria Elisabetta
Mazzuccato, Giorgia
Gatto, Antonio
Ferrara, Pietro
Ferraro, Pietro Manuel
Urbani, Andrea
Minucci, Angelo
author_facet De Bonis, Maria
De Paolis, Elisa
Onori, Maria Elisabetta
Mazzuccato, Giorgia
Gatto, Antonio
Ferrara, Pietro
Ferraro, Pietro Manuel
Urbani, Andrea
Minucci, Angelo
author_sort De Bonis, Maria
collection PubMed
description Pathogenic variants (PVs) in CYP24A1 gene are associated with Idiopathic Infantile Hypercalcemia disease (IIH). The identification of CYP24A1 PVs can be a useful tool for the improvement of target therapeutic strategies. Aim of this study is to set up a rapid and inexpensive High Resolution Melting Analysis (HRMA)-based method for the simultaneous genotyping of two hot spot PVs in CYP24A1 gene, involved in IIH. A duplex-HRMA (dHRMA) was designed in order to detect simultaneously CYP24A1 c.428_430delAAG, p.(Glu143del) (rs777676129) and c.1186C > T, p.(Arg396Trp) (rs114368325), in peculiar cases addressed to our Laboratory. dHRMA was able to identify clearly and simultaneously both hot spot CYP24A1 PVs evaluating melting curve shape and melting temperature (T(m)). This is the first dHRMA approach to rapidly screen the two most frequent CYP24A1 PVs in peculiar case, providing useful information for diagnosis and patient management in IIH disease.
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spelling pubmed-81724112021-06-07 Duplex high resolution melting analysis (dHRMA) to detect two hot spot CYP24A1 pathogenic variants (PVs) associated to idiopathic infantile hypercalcemia (IIH) De Bonis, Maria De Paolis, Elisa Onori, Maria Elisabetta Mazzuccato, Giorgia Gatto, Antonio Ferrara, Pietro Ferraro, Pietro Manuel Urbani, Andrea Minucci, Angelo Mol Biol Rep Original Article Pathogenic variants (PVs) in CYP24A1 gene are associated with Idiopathic Infantile Hypercalcemia disease (IIH). The identification of CYP24A1 PVs can be a useful tool for the improvement of target therapeutic strategies. Aim of this study is to set up a rapid and inexpensive High Resolution Melting Analysis (HRMA)-based method for the simultaneous genotyping of two hot spot PVs in CYP24A1 gene, involved in IIH. A duplex-HRMA (dHRMA) was designed in order to detect simultaneously CYP24A1 c.428_430delAAG, p.(Glu143del) (rs777676129) and c.1186C > T, p.(Arg396Trp) (rs114368325), in peculiar cases addressed to our Laboratory. dHRMA was able to identify clearly and simultaneously both hot spot CYP24A1 PVs evaluating melting curve shape and melting temperature (T(m)). This is the first dHRMA approach to rapidly screen the two most frequent CYP24A1 PVs in peculiar case, providing useful information for diagnosis and patient management in IIH disease. Springer Netherlands 2021-04-17 2021 /pmc/articles/PMC8172411/ /pubmed/33864587 http://dx.doi.org/10.1007/s11033-021-06324-x Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Original Article
De Bonis, Maria
De Paolis, Elisa
Onori, Maria Elisabetta
Mazzuccato, Giorgia
Gatto, Antonio
Ferrara, Pietro
Ferraro, Pietro Manuel
Urbani, Andrea
Minucci, Angelo
Duplex high resolution melting analysis (dHRMA) to detect two hot spot CYP24A1 pathogenic variants (PVs) associated to idiopathic infantile hypercalcemia (IIH)
title Duplex high resolution melting analysis (dHRMA) to detect two hot spot CYP24A1 pathogenic variants (PVs) associated to idiopathic infantile hypercalcemia (IIH)
title_full Duplex high resolution melting analysis (dHRMA) to detect two hot spot CYP24A1 pathogenic variants (PVs) associated to idiopathic infantile hypercalcemia (IIH)
title_fullStr Duplex high resolution melting analysis (dHRMA) to detect two hot spot CYP24A1 pathogenic variants (PVs) associated to idiopathic infantile hypercalcemia (IIH)
title_full_unstemmed Duplex high resolution melting analysis (dHRMA) to detect two hot spot CYP24A1 pathogenic variants (PVs) associated to idiopathic infantile hypercalcemia (IIH)
title_short Duplex high resolution melting analysis (dHRMA) to detect two hot spot CYP24A1 pathogenic variants (PVs) associated to idiopathic infantile hypercalcemia (IIH)
title_sort duplex high resolution melting analysis (dhrma) to detect two hot spot cyp24a1 pathogenic variants (pvs) associated to idiopathic infantile hypercalcemia (iih)
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8172411/
https://www.ncbi.nlm.nih.gov/pubmed/33864587
http://dx.doi.org/10.1007/s11033-021-06324-x
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