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Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants.
Bosman, Willem; Franken, Gijs A C; de Las Heras, Javier; Madariaga, Leire; Barakat, Tahsin Stefan; Oostenbrink, Rianne; van Slegtenhorst, Marjon; Perdomo-Ramírez, Ana; Claverie-Martín, Félix; van Eerde, Albertien M; Vargas-Poussou, Rosa; Dubourg, Laurence Derain; González-Recio, Irene; Martínez-Cruz, Luis Alfonso; de Baaij, Jeroen H F; Hoenderop, Joost G J.
Afiliación
  • Bosman W; Department of Medical BioSciences, Radboudumc, Nijmegen, The Netherlands.
  • Franken GAC; Department of Medical BioSciences, Radboudumc, Nijmegen, The Netherlands.
  • de Las Heras J; Division of Pediatric Metabolism, Cruces University Hospital, CIBER-ER, Metab-ERN, University of the Basque Country (UPV/EHU), Biobizkaia Health Research Institute, Barakaldo, Spain.
  • Madariaga L; Pediatric Nephrology Department, Cruces University Hospital, CIBERDEM, CIBER-ER, Endo-ERN, Biocruces Bizkaia Health Research Institute and University of the Basque Country (UPV/EHU), Barakaldo, Spain.
  • Barakat TS; Deparment of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
  • Oostenbrink R; Discovery Unit, Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
  • van Slegtenhorst M; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands.
  • Perdomo-Ramírez A; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands.
  • Claverie-Martín F; Department of General Pediatrics, Erasmus Medical Center Sophia Children's Hospital, Rotterdam, The Netherlands.
  • van Eerde AM; Deparment of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
  • Vargas-Poussou R; Unidad de Investigación, Renal Tube Group, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain.
  • Dubourg LD; Unidad de Investigación, Renal Tube Group, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain.
  • González-Recio I; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Martínez-Cruz LA; Service de medecine genomique des maladies rares, AP-HP, universite Paris Cité, Paris, France.
  • de Baaij JHF; Centre de reference des maladies renales hereditaires de l'enfant et de l'adulte MARHEA, hopital Européen Georges Pompidou, Paris, France.
  • Hoenderop JGJ; CNRS, centre de recherche des Cordeliers, Inserm UMRS 1138, Sorbonne universite, universite Paris Cité, Paris, France.
Sci Rep ; 14(1): 6917, 2024 03 22.
Article en En | MEDLINE | ID: mdl-38519529
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas de Transporte de Catión / Discapacidad Intelectual Límite: Humans Idioma: En Revista: Sci Rep Año: 2024 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas de Transporte de Catión / Discapacidad Intelectual Límite: Humans Idioma: En Revista: Sci Rep Año: 2024 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Reino Unido