Evidence map›Paper›PMID 39062601›Full record

ArticleGenes2024

Investigation of a Large Kindred Reveals Cardiac Calsequestrin (

Maria d'Apolito, Francesco Santoro, Alessandra Ranaldi, Ilaria Ragnatela, Anna Laura Colia, Sara Cannito, Alessandra Margaglione, Girolamo D'Arienzo, Giovanna D'Andrea, PierLuigi Pellegrino and 3 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. 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

13 authors.

Maria d'ApolitoMedical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, 71122 Foggia, Italy.ORCID 0000-0001-9170-4668
Francesco SantoroCardiology Unit, Department of Medical and Surgery Sciences, University of Foggia, 71122 Foggia, Italy.ORCID 0000-0001-9909-6513
Alessandra RanaldiMedical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, 71122 Foggia, Italy.ORCID 0009-0009-1701-5309
Ilaria RagnatelaCardiology Unit, Department of Medical and Surgery Sciences, University of Foggia, 71122 Foggia, Italy.
Anna Laura ColiaMedical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, 71122 Foggia, Italy.ORCID 0000-0003-0231-2780
Sara CannitoMedical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, 71122 Foggia, Italy.
Alessandra MargaglioneCardiology Unit, Department of Medical and Surgery Sciences, University of Foggia, 71122 Foggia, Italy.
Girolamo D'ArienzoCardiology Unit, Department of Medical and Surgery Sciences, University of Foggia, 71122 Foggia, Italy.
Giovanna D'AndreaMedical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, 71122 Foggia, Italy.
PierLuigi PellegrinoCardiology Unit, Department of Medical and Surgery Sciences, University of Foggia, 71122 Foggia, Italy.
Rosa SantacroceMedical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, 71122 Foggia, Italy.
Natale Daniele BrunettiCardiology Unit, Department of Medical and Surgery Sciences, University of Foggia, 71122 Foggia, Italy.
Maurizio MargaglioneMedical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, 71122 Foggia, Italy.

Funding

the European Union-NextGenerationUE-as part of the PNRR MUR-M4C2-Investimento 1.3-Public Call "Partenariati Estesi"-D.D. n. 341/2022. PNRR MUR-M4C2-Investimento 1.3-Public Call "Partenariati Estesi"-D.D. n. 341/2022.
6 · The paper itself

Abstract

backgroundBrugada syndrome (BrS) is an inherited primary channelopathy syndrome associated with the risk of ventricular fibrillation (VF) and sudden cardiac death in a structurally normal heart. AIM OF THE STUDY: The aim of this study was to clinically and genetically evaluate a large family with severe autosomal dominant Brugada syndrome.

methodsClinical and genetic studies were performed. Genetic analysis was conducted with NGS technologies (WES) using the Illumina instrument. According to the standard procedure, variants found by WES were confirmed in all available families by Sanger sequencing. The effect of the variants was studied by using in silico prediction of pathogenicity.

resultsThe proband was a 52-year-old man who was admitted to the emergency department for syncope at rest. WES of the index case identified a heterozygous VUS

conclusionsOur data suggest that the p.Tyr178His substitution is associated with BrS in the family investigated, affecting the stability of the protein, disrupting filamentation at the interdimer interface, and affecting the subsequent formation of tetramers and polymers that contain calcium-binding sites.

Indexed as

Brugada SyndromeCalsequestrinMutation, MissensePedigreeAdultFemaleHumansMaleMiddle AgedCalsequestrinCASQ2 protein, humanBrugada syndromeCASQ2genegenetics

Identifiers

PMID39062601
PMCPMC11275647

What Socratic 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 Socratic graph.