dc.contributor.author | García Castaño, Alejandro | |
dc.contributor.author | Madariaga Domínguez, Leire | |
dc.contributor.author | Antón Gamero, Montserrat | |
dc.contributor.author | Mejia, Natalia | |
dc.contributor.author | Ponce, Jenny | |
dc.contributor.author | Gómez Conde, Sara | |
dc.contributor.author | Pérez de Nanclares, Gustavo | |
dc.contributor.author | De la Hoz, Ana Belén | |
dc.contributor.author | Martínez Salazar, Rosa | |
dc.contributor.author | Saso Jiménez, Laura | |
dc.contributor.author | Martínez de la Piscina Martín, Idoia | |
dc.contributor.author | Urrutia, Inés | |
dc.contributor.author | Velasco, Olaia | |
dc.contributor.author | Aguayo Calcena, Aníbal | |
dc.contributor.author | Castaño González, Luis Antonio | |
dc.contributor.author | Gaztambide Sáenz, María Sonia | |
dc.date.accessioned | 2021-02-19T10:48:03Z | |
dc.date.available | 2021-02-19T10:48:03Z | |
dc.date.issued | 2020-09-30 | |
dc.identifier.citation | Plos One 15(9) : (2020) // Article ID e0239965 | es_ES |
dc.identifier.issn | 1932-6203 | |
dc.identifier.uri | http://hdl.handle.net/10810/50215 | |
dc.description.abstract | The maintenance of magnesium (Mg2+) homeostasis is essential for human life. The Cystathionine-beta-synthase (CBS)-pair domain divalent metal cation transport mediators (CNNMs) have been described to be involved in maintaining Mg2+ homeostasis. Among these CNNMs, CNNM2 is expressed in the basolateral membrane of the kidney tubules where it is involved in Mg2+ reabsorption. A total of four patients, two of them with a suspected disorder of calcium metabolism, and two patients with a clinical diagnosis of primary tubulopathy were screened for mutations by Next-Generation Sequencing (NGS). We found one novel likely pathogenic variant in the heterozygous state (c.2384C>A; p.(Ser795*)) in theCNNM2gene in a family with a suspected disorder of calcium metabolism. In this family, hypomagnesemia was indirectly discovered. Moreover, we observed three novel variants of uncertain significance in heterozygous state in the other three patients (c.557G>C; p.(Ser186Thr), c.778A>T; p.(Ile260Phe), and c.1003G>A; p.(Asp335Asn)). Our study shows the utility of Next-Generation Sequencing in unravelling the genetic origin of rare diseases. In clinical practice, serum Mg2+ should be determined in calcium and PTH-related disorders. | es_ES |
dc.description.sponsorship | This study was supported by three grants from the Department of Health (2017111014, 2018111097 and 2019111052) and one grant from the Department of Education (IT1281-19) of the Basque Government. This work is generated within the Endocrine European Reference Network (Project ID number of Endo-ERN: 739527). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | Public Library Science | es_ES |
dc.rights | info:eu-repo/semantics/openAccess | es_ES |
dc.rights.uri | http://creativecommons.org/licenses/by/3.0/es/ | * |
dc.subject | NA+/MG2+ exchangers | es_ES |
dc.subject | CNNM proteins | es_ES |
dc.subject | magnesium | es_ES |
dc.title | Novel Variant in the CNNM2 Gene Associated with Dominant Hypomagnesemia | es_ES |
dc.type | info:eu-repo/semantics/article | es_ES |
dc.rights.holder | This is an open access article distributed under the terms of the Creative Commons Attribution License (CC BY 4.0) | es_ES |
dc.rights.holder | Atribución 3.0 España | * |
dc.relation.publisherversion | https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0239965 | es_ES |
dc.identifier.doi | 10.1371/journal.pone.0239965 | |
dc.departamentoes | Medicina | es_ES |
dc.departamentoes | Pediatría | es_ES |
dc.departamentoeu | Medikuntza | es_ES |
dc.departamentoeu | Pediatria | es_ES |