Evidence map›Paper›PMID 38519529›Full record

ArticleScientific reports2024

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

Willem Bosman, Gijs A C Franken, Javier de Las Heras, Leire Madariaga, Tahsin Stefan Barakat, Rianne Oostenbrink, Marjon van Slegtenhorst, Ana Perdomo-Ramírez, Félix Claverie-Martín, Albertien M van Eerde and 6 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Scientific reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.6field-weighted citation impact, top 37% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 2 citations in OpenAlex.

  1. Article
  2. Two novel variants inFrontiers in genetics · 2025
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

16 authors at 12 institutions in 3 countries.

Willem BosmanDepartment of Medical BioSciences, Radboudumc, Nijmegen, The Netherlands.
Gijs A C FrankenDepartment of Medical BioSciences, Radboudumc, Nijmegen, The Netherlands.
Javier de Las HerasDivision of Pediatric Metabolism, Cruces University Hospital, CIBER-ER, Metab-ERN, University of the Basque Country (UPV/EHU), Biobizkaia Health Research Institute, Barakaldo, Spain.
Leire MadariagaPediatric 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.
Tahsin Stefan BarakatDeparment of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
Rianne OostenbrinkENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands.
Marjon van SlegtenhorstDeparment of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
Ana Perdomo-RamírezUnidad de Investigación, Renal Tube Group, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain.
Félix Claverie-MartínUnidad de Investigación, Renal Tube Group, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain.
Albertien M van EerdeDepartment of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Rosa Vargas-PoussouService de medecine genomique des maladies rares, AP-HP, universite Paris Cité, Paris, France.
Laurence Derain DubourgHôpital Édouard Herriot, Hospices civils de Lyon, service de nephrologie, dialyse, hypertension et exploration fonctionnelle renale, Lyon, France.
Irene González-RecioCenter for Cooperative Research in Biosciences (CIC bioGUNE), Bizkaia Science and Technology Park, Derio, Bizkaia, Spain.
Luis Alfonso Martínez-CruzCenter for Cooperative Research in Biosciences (CIC bioGUNE), Bizkaia Science and Technology Park, Derio, Bizkaia, Spain.
Jeroen H F de BaaijDepartment of Medical BioSciences, Radboudumc, Nijmegen, The Netherlands.
Joost G J HoenderopDepartment of Medical BioSciences, Radboudumc, Nijmegen, The Netherlands. joost.hoenderop@radboudumc.nl.
Erasmus MC · NLHospital Universitario Nuestra Señora de Candelaria · ESRadboud University Medical Center · NLRadboud University Nijmegen · NLBioCruces Health research Institute · ESCentre for Biomedical Network Research on Rare Diseases · ESCIC bioGUNE · ESErasmus University Rotterdam · NLEuskadiko Parke Teknologikoa · ESHospices Civils de Lyon · FRSorbonne Paris Cité · FRUniversity Medical Center Utrecht · NL

Funding

ZonMw 09150172110002
6 · The paper itself

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 Mg

Indexed as

Cation Transport ProteinsIntellectual DisabilityHumansMagnesiumPhenotypeSeizuresCation Transport ProteinsCNNM2 protein, humanMagnesiumCNNM2Genetic hypomagnesaemiaIntellectual disabilityVariant characterisation

Identifiers

PMID38519529
PMCPMC10959950
OpenAlexW4393078486

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.