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Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants.

التفاصيل البيبلوغرافية
العنوان: Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants.
المؤلفون: 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.; Discovery Unit, Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands., Oostenbrink R; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands.; Department of General Pediatrics, Erasmus Medical Center Sophia Children's Hospital, Rotterdam, The Netherlands., van Slegtenhorst M; Deparment of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., Perdomo-Ramírez A; Unidad de Investigación, Renal Tube Group, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain., Claverie-Martín F; Unidad de Investigación, Renal Tube Group, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain., van Eerde AM; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Vargas-Poussou R; Service de medecine genomique des maladies rares, AP-HP, universite Paris Cité, Paris, France.; Centre de reference des maladies renales hereditaires de l'enfant et de l'adulte MARHEA, hopital Européen Georges Pompidou, Paris, France.; CNRS, centre de recherche des Cordeliers, Inserm UMRS 1138, Sorbonne universite, universite Paris Cité, Paris, France., Dubourg LD; Hôpital Édouard Herriot, Hospices civils de Lyon, service de nephrologie, dialyse, hypertension et exploration fonctionnelle renale, Lyon, France.; Centre de reference des maladies renales rares et phosphocalciques, Nephrogones, Hôpital Femme-Mère-Enfant Bron, Bron, France.; Faculté de medecine Lyon est, Université Claude Bernard Lyon 1, Villeurbanne, France., González-Recio I; Center for Cooperative Research in Biosciences (CIC bioGUNE), Bizkaia Science and Technology Park, Derio, Bizkaia, Spain., Martínez-Cruz LA; Center for Cooperative Research in Biosciences (CIC bioGUNE), Bizkaia Science and Technology Park, Derio, Bizkaia, Spain., de Baaij JHF; Department of Medical BioSciences, Radboudumc, Nijmegen, The Netherlands., Hoenderop JGJ; Department of Medical BioSciences, Radboudumc, Nijmegen, The Netherlands. joost.hoenderop@radboudumc.nl.
المصدر: Scientific reports [Sci Rep] 2024 Mar 22; Vol. 14 (1), pp. 6917. Date of Electronic Publication: 2024 Mar 22.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE
أسماء مطبوعة: Original Publication: London : Nature Publishing Group, copyright 2011-
مواضيع طبية MeSH: Intellectual Disability*/genetics , Cation Transport Proteins*/genetics, Humans ; Magnesium/metabolism ; Seizures/genetics ; Phenotype
مستخلص: 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 Mg 2+ 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 Ca 2+ homeostasis.
(© 2024. The Author(s).)
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معلومات مُعتمدة: 09150172110002 Netherlands ZONMW_ ZonMw
فهرسة مساهمة: Keywords: CNNM2; Genetic hypomagnesaemia; Intellectual disability; Variant characterisation
المشرفين على المادة: I38ZP9992A (Magnesium)
0 (Cation Transport Proteins)
0 (CNNM2 protein, human)
تواريخ الأحداث: Date Created: 20240323 Date Completed: 20240325 Latest Revision: 20240325
رمز التحديث: 20240325
مُعرف محوري في PubMed: PMC10959950
DOI: 10.1038/s41598-024-57061-7
PMID: 38519529
قاعدة البيانات: MEDLINE
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