dc.contributor.author | Bosman, Willem | |
dc.contributor.author | Franken, Gijs A. C. | |
dc.contributor.author | De las Heras Montero, Javier Adolfo | |
dc.contributor.author | Madariaga Domínguez, Leire | |
dc.contributor.author | Barakat, Tahsin Stefan | |
dc.contributor.author | Oostenbrink, Rianne | |
dc.contributor.author | van Slegtenhorst, Marjon | |
dc.contributor.author | Perdomo Ramírez, Ana | |
dc.contributor.author | Claverie Martín, Félix | |
dc.contributor.author | van Eerde, Albertien M. | |
dc.contributor.author | Vargas Poussou, Rosa | |
dc.contributor.author | Dubourg, Laurence Derain | |
dc.contributor.author | González Recio, Irene | |
dc.contributor.author | Martínez Cruz, Luis Alfonso | |
dc.contributor.author | de Baaij, Jeroen H. F. | |
dc.contributor.author | Hoenderop, Joost G. J. | |
dc.date.accessioned | 2024-10-14T17:50:34Z | |
dc.date.available | 2024-10-14T17:50:34Z | |
dc.date.issued | 2024-03-22 | |
dc.identifier.citation | Scientific Reports 14 : (2024) // Article ID 6917 | es_ES |
dc.identifier.issn | 2045-2322 | |
dc.identifier.uri | http://hdl.handle.net/10810/69933 | |
dc.description.abstract | Variants in the CNNM2 gene are causative for hypomagnesaemia, seizures and intellectual disability, although the phenotypes can be variable. This study aims to understand the genotype–phenotype relationship in affected individuals with CNNM2 variants by phenotypic, functional and structural analysis of new as well as previously reported variants. This results in the identification of seven variants that significantly affect CNNM2-mediated Mg2+ transport. Pathogenicity of these variants is further supported by structural modelling, which predicts CNNM2 structure to be affected by all of them. Strikingly, seizures and intellectual disability are absent in 4 out of 7 cases, indicating these phenotypes are caused either by specific CNNM2 variant only or by additional risk factors. Moreover, in line with sporadic observations from previous reports, CNNM2 variants might be associated with disturbances in parathyroid hormone and Ca2+ homeostasis. | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | Nature Research | es_ES |
dc.rights | info:eu-repo/semantics/openAccess | es_ES |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | |
dc.title | Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants | es_ES |
dc.type | info:eu-repo/semantics/article | es_ES |
dc.rights.holder | © 2024 The Author(s) This article is licensed under a Creative Commons Attribution 4.0 International License | es_ES |
dc.relation.publisherversion | https://doi.org/10.1038/s41598-024-57061-7 | es_ES |
dc.identifier.doi | 10.1038/s41598-024-57061-7 | |
dc.departamentoes | Pediatría | es_ES |
dc.departamentoeu | Pediatria | es_ES |